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1.
BMC Genomics ; 24(1): 480, 2023 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-37620802

RESUMO

BACKGROUND: Reproduction is a key feature of the sustainability of a species and thus represents an important component in livestock genetic improvement programs. Most reproductive traits are lowly heritable. In order to gain a better understanding of the underlying genetic basis of these traits, a genome-wide association was conducted for age at first calving (AFC), first inter-calving period (ICP) and scrotal circumference (SC) within the South African Bonsmara breed. Phenotypes and genotypes (120,692 single nucleotide polymorphisms (SNPs) post editing) were available on 7,128 South African Bonsmara cattle; the association analyses were undertaken using linear mixed models. RESULTS: Genomic restricted maximum likelihood analysis of the 7,128 SA Bonsmara cattle yielded genomic heritability's of 0.183 (SE = 0.021) for AFC, 0.207 (SE = 0.022) for ICP and 0.209 (SE = 0.019) for SC. A total of 16, 23 and 51 suggestive (P ≤ 4 × 10-6) SNPs were associated with AFC, ICP and SC, while 11, 11 and 44 significant (P ≤ 4 × 10-7) SNPs were associated with AFC, ICP and SC respectively. A total of 11 quantitative trait loci (QTL) and 11 candidate genes were co-located with these associated SNPs for AFC, with 10 QTL harbouring 11 candidate genes for ICP and 41 QTL containing 40 candidate genes for SC. The QTL identified were close to genes previously associated with carcass, fertility, growth and milk-related traits. The biological pathways influenced by these genes include carbohydrate catabolic processes, cellular development, iron homeostasis, lipid metabolism and storage, immune response, ovarian follicle development and the regulation of DNA transcription and RNA translation. CONCLUSIONS: This was the first attempt to study the underlying polymorphisms associated with reproduction in South African beef cattle. Genes previously reported in cattle breeds for numerous traits bar AFC, ICP or SC were detected in this study. Over 20 different genes have not been previously reported in beef cattle populations and may have been associated due to the unique genetic composite background of the SA Bonsmara breed.


Assuntos
Bovinos , Estudo de Associação Genômica Ampla , Locos de Características Quantitativas , Fenômenos Reprodutivos Fisiológicos , Animais , Bovinos/genética , Bovinos/fisiologia , Feminino , Diferenciação Celular , Genótipo , África do Sul , Fenômenos Reprodutivos Fisiológicos/genética , Reprodução/genética , Reprodução/fisiologia , Masculino
2.
Endocrinology ; 163(12)2022 10 23.
Artigo em Inglês | MEDLINE | ID: mdl-36181426

RESUMO

Estrogen receptor alpha (ERα)-mediated estrogen signaling plays a pivotal role in both reproductive and nonreproductive functions. Transcriptional regulation of the ERα gene is highly complex, with multiple transcript variants being differentially produced across the tissues. However, tissue-specific variation and physiological specificity of the ERα variants are not yet fully understood. In an attempt to generate a Cre-dependently restorable ERα-null mouse for functional genetic studies, we unexpectedly produced ERα hypomorphic mice with biased downregulation of a previously unappreciated long ERα isoform that is enriched in the female reproductive organs (uterus and ovaries) and the pituitary but minimally expressed in the brain. Female homozygous mutant mice were capable of pregnancy but displayed irregular estrus cycle and rarely kept newborn pups alive. No significant morphological and pathological changes in reproductive system or disruption of body weight homeostasis were seen in female homozygous mutant mice. Collectively, our results define a tissue-specific enriched long ERα isoform and its preferential role in female reproductive function rather than body weight homeostasis.


Assuntos
Receptor alfa de Estrogênio , Estrogênios , Fenômenos Reprodutivos Fisiológicos , Animais , Feminino , Camundongos , Peso Corporal , Receptor alfa de Estrogênio/genética , Camundongos Knockout , Isoformas de Proteínas , Fenômenos Reprodutivos Fisiológicos/genética
3.
Maturitas ; 137: 11-17, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32498931

RESUMO

Mutation of BRCA genes significantly increases the lifetime risk of breast, ovarian, fallopian tube and primary peritoneal cancers. In addition to the increased risk of these multiple malignancies, the recent literature suggests that mutations in BRCA genes may lead to decreased reproductive potential. In this systematic review, we focus on the effect of BRCA gene mutation on reproductive potential. The main outcomes included the rate of nulliparity, ovarian reserve, ovarian response, and the age at natural menopause. A total of 23 observational studies were included for quality analysis. The certainty of evidence was low to moderate: the main limitations were imprecision and statistically significant heterogeneity. Meta-analysis suggested that the rate of nulliparity, serum anti-müllerian hormone levels, antral follicle counts and ovarian response were not significantly affected in BRCA gene mutation carriers (P > 0.05). BRCA gene mutation carriers tended to have a lower number of primordial follicles (P = 0.0002) and lower age at natural menopause than non-carriers. In conclusion, there is no compelling evidence indicating that the rate of nulliparity, serum AMH, antral follicle counts and ovarian response are affected in BRCA mutation carriers.


Assuntos
Genes BRCA1 , Genes BRCA2 , Fenômenos Reprodutivos Fisiológicos/genética , Hormônio Antimülleriano/sangue , Feminino , Humanos , Menopausa/genética , Mutação , Folículo Ovariano , Reserva Ovariana/genética , Paridade/genética
4.
Rev. lab. clín ; 12(3): e25-e39, jul.-sept. 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-187162

RESUMO

Varios miembros de diferentes asociaciones científicas y expertos de la reproducción han actualizado las recomendaciones de estudio genético e inmunológico en las parejas con disfunción en la reproducción con el fin de mejorar la asistencia sanitaria. El estudio se ha considerado altamente recomendable cuando la prueba diagnóstica es relevante para la toma de decisiones, moderada cuando estas han mostrado un resultado poco consistente y baja, cuando el beneficio de la prueba es incierto. Con la indicación de estas recomendaciones obtendremos una información relevante para el diagnóstico, pronóstico y tratamiento de la pareja con disfunción en la reproducción


In this article several members of diverse scientific associations and reproduction experts from Spain have updated different genetic and immunological procedure recommendations in couples affected by reproductive dysfunction with the goal of providing a set of useful guidelines for the clinic. The laboratory test has been considered as highly recommendable for making clinical decisions when the result of the diagnostic test is relevant, moderately recommendable when the results are of limited evidence because they are inconsistent, and low when the benefit of the test is uncertain. It is expected that these recommendations will provide some useful guidelines for the diagnosis, prognosis and treatment of couples presenting reproductive dysfunction


Assuntos
Humanos , Infertilidade/diagnóstico , Testes Imunológicos/métodos , Testes Genéticos/métodos , Técnicas Reprodutivas/ética , Aborto Habitual/genética , Análise Citogenética/métodos , Fenômenos Reprodutivos Fisiológicos/genética , Fenômenos Reprodutivos Fisiológicos/imunologia , Padrões de Prática Médica , Aconselhamento Genético/organização & administração , Infertilidade Masculina/genética , Doenças Genéticas Inatas/prevenção & controle
6.
Arq. bras. med. vet. zootec. (Online) ; 69(2): l4369-436, mar.-abr. 2017. tab, graf
Artigo em Inglês | LILACS, VETINDEX | ID: biblio-1462528

RESUMO

Profitability of sheep production depends on the reproductive response of ewes and growth of their lambs, which can be improved through the ram genotype. The aim of this study was to evaluate the reproductive response of Blackbelly (Bb), Pelibuey (Pb), Katahdin (Kat) and Dorper (Dor) ewes crossed with Damara (Dam) and Dor rams and the growth of their offspring. To measure percentage of single and multiple lambings (MLP), 234 Bb, Pb, Kat and Dor ewes were used. To measure lamb growth, the offspring of 86 Bb x Pb (BbPb) ewes and 73 Kat x Dor (KatDOR) ewes were used. Four Dor x BbPb, six Dam x BbPb and six Dam x KatDor lambs were slaughtered for carcass assessment. MLP was analyzed with the CATMOD procedure considering the factors age and breed. Lamb growth data were analyzed with the MIXED procedure, and those of carcass characteristics with the GLM procedure of SAS, using weight at slaughter as covariable. MLP was higher (P0.05) by effect of ram breed. It is concluded that Bb ewes are more prolific than Dor ewes; male lambs of Dam rams had post-weaning growth response and carcass yield similar to those of Dor rams, although the female lambs of Dor rams were heavier than those of Dam rams.


Rentabilidade da produção de ovinos depende da resposta reprodutiva de ovelhas e do crescimento de seus cordeiros, o que pode ser melhorado por meio do genótipo masculino. O objetivo deste estudo foi avaliar o desempenho reprodutivo de ovinos Blackbelly (Bb), Pelibuey (Pb), Katadin (Kat) e Dorper (Dor) e o crescimento de cordeiros com carneiros Damara (Dam) e Dor. Para medir a porcentagem de partos simples e múltiplas (MLP), foram utilizados 234 ovelhas Bb, PB, Kat e Dor. Para medir o crescimento dos cordeiros, foram utilizadas 86 ovelhas Bb x Pb (BbPb) e 73 Kat x Dor (KatDOR). Quatro cordeiros Dor x BbPb, seis Dam x BbPb e seis Dam x KatDor foram sacrificados para avaliação de carcaça. MLP foi analisada com o procedimento CATMOD, considerando-se fatores como idade e raça. Dados de crescimento do cordeiro foram analisados com o procedimento MIXED, e as de características de carcaça com o procedimento GLM do SAS, utilizando-se peso ao sacrifício como covariável. MLP foi maior (P<0.05) em Bb do que em Dor. Os cordeiros Dor x BbPb foram mais pesados (P<0.05) no nascimento do que Dam x BbPb. Em partos simples e múltiplos, os cordeiros de ovelhas KatDor foram mais pesados (P<0.05) no momento do nascimento de cordeiros BbPb. As cordeiras de carneiros Dor apresentaram maior (P<0.05) ganho de peso após o desmame do que as de carneiros Dam. O rendimento de carcaça, a espessura da gordura subcutânea e o rendimento de corte primal não foram diferentes por efeito da raça de carneiro. Conclui-se que as ovelhas Bb são mais prolíficas do que as ovelhas Dor; cordeiros de carneiros Damara tiveram resposta de crescimento pós-desmame e rendimento de carcaça semelhantes aos dos carneiros Dor, embora Dorper cordeiras fossem mais pesadas do que as de Damara.


Assuntos
Animais , Aumento de Peso , Desmame , Ovinos/crescimento & desenvolvimento , Ovinos/genética , Reprodução/genética , Tamanho da Ninhada de Vivíparos/genética , Fenômenos Reprodutivos Fisiológicos/genética
7.
Arq. bras. med. vet. zootec ; 69(2): 429-436, mar.-abr. 2017. tab, graf
Artigo em Inglês | LILACS, VETINDEX | ID: biblio-833949

RESUMO

Profitability of sheep production depends on the reproductive response of ewes and growth of their lambs, which can be improved through the ram genotype. The aim of this study was to evaluate the reproductive response of Blackbelly (Bb), Pelibuey (Pb), Katahdin (Kat) and Dorper (Dor) ewes crossed with Damara (Dam) and Dor rams and the growth of their offspring. To measure percentage of single and multiple lambings (MLP), 234 Bb, Pb, Kat and Dor ewes were used. To measure lamb growth, the offspring of 86 Bb x Pb (BbPb) ewes and 73 Kat x Dor (KatDOR) ewes were used. Four Dor x BbPb, six Dam x BbPb and six Dam x KatDor lambs were slaughtered for carcass assessment. MLP was analyzed with the CATMOD procedure considering the factors age and breed. Lamb growth data were analyzed with the MIXED procedure, and those of carcass characteristics with the GLM procedure of SAS, using weight at slaughter as covariable. MLP was higher (P<0.05) in Bb than in Dor. The Dor x BbPb lambs were heavier (P<0.05) at birth than Dam x BbPb. Of the lambs from single and multiple births, the KatDor lambs were heavier (P<0.05) at birth than BbPb lambs. The female lambs of Dor rams had higher (P<0.05) weight gain after weaning than those of Dam rams. Carcass dressing, subcutaneous fat, and primal cut yield were not different (P>0.05) by effect of ram breed. It is concluded that Bb ewes are more prolific than Dor ewes; male lambs of Dam rams had post-weaning growth response and carcass yield similar to those of Dor rams, although the female lambs of Dor rams were heavier than those of Dam rams.(AU)


Rentabilidade da produção de ovinos depende da resposta reprodutiva de ovelhas e do crescimento de seus cordeiros, o que pode ser melhorado por meio do genótipo masculino. O objetivo deste estudo foi avaliar o desempenho reprodutivo de ovinos Blackbelly (Bb), Pelibuey (Pb), Katadin (Kat) e Dorper (Dor) e o crescimento de cordeiros com carneiros Damara (Dam) e Dor. Para medir a porcentagem de partos simples e múltiplas (MLP), foram utilizados 234 ovelhas Bb, PB, Kat e Dor. Para medir o crescimento dos cordeiros, foram utilizadas 86 ovelhas Bb x Pb (BbPb) e 73 Kat x Dor (KatDOR). Quatro cordeiros Dor x BbPb, seis Dam x BbPb e seis Dam x KatDor foram sacrificados para avaliação de carcaça. MLP foi analisada com o procedimento CATMOD, considerando-se fatores como idade e raça. Dados de crescimento do cordeiro foram analisados com o procedimento MIXED, e as de características de carcaça com o procedimento GLM do SAS, utilizando-se peso ao sacrifício como covariável. MLP foi maior (P<0.05) em Bb do que em Dor. Os cordeiros Dor x BbPb foram mais pesados (P<0.05) no nascimento do que Dam x BbPb. Em partos simples e múltiplos, os cordeiros de ovelhas KatDor foram mais pesados (P<0.05) no momento do nascimento de cordeiros BbPb. As cordeiras de carneiros Dor apresentaram maior (P<0.05) ganho de peso após o desmame do que as de carneiros Dam. O rendimento de carcaça, a espessura da gordura subcutânea e o rendimento de corte primal não foram diferentes por efeito da raça de carneiro. Conclui-se que as ovelhas Bb são mais prolíficas do que as ovelhas Dor; cordeiros de carneiros Damara tiveram resposta de crescimento pós-desmame e rendimento de carcaça semelhantes aos dos carneiros Dor, embora Dorper cordeiras fossem mais pesadas do que as de Damara.(AU)


Assuntos
Animais , Tamanho da Ninhada de Vivíparos/genética , Reprodução/genética , Ovinos/genética , Ovinos/crescimento & desenvolvimento , Desmame , Aumento de Peso , Fenômenos Reprodutivos Fisiológicos/genética
8.
Arq. ciênc. vet. zool. UNIPAR ; 18(1): 69-75, jan.-mar. 2015.
Artigo em Português | LILACS, VETINDEX | ID: biblio-1462616

RESUMO

O ciclo estral é a sincronia entre eventos comportamentais, anatômicos e endócrinos que resultam na ovulação, e pode ser dividido em fase lútea e fase folicular. A identificação das fases do ciclo estral da égua pode ser acompanhada por meio de várias biotécnicas reprodutivas como, por exemplo, citologia vaginal classificando os diversos tipos de células do epitélio vaginal, ultrassonografia para avaliação da dinâmica folicular e a dosagem hormonal no plasma sanguíneo ou das fezes do animal para caracterizar a fase do ciclo estral que o animal possivelmente se encontra. Sendo assim, o objetivo desta revisão foi discutir a fisiologia do ciclo estral de éguas, a fim de favorecer novas pesquisas relacionadas à biotécnicas reprodutivas para equinos.


The estrous cycle is the synchrony of behavioral, anatomical and endocrine events that result in ovulation. It can be divided into luteal and follicular phases. The identification of the stages in the estrous cycle of mares can be accomplished through several reproductive biotechnologies, such as, for instance, vaginal cytology classifying the different types of cells in the vaginal epithelium, follicular dynamics evaluated through ultrasound examination, and hormone dosage in blood plasma or feces from the animal to characterize the likely estrous cycle phase. Thus, the objective of this review is to discuss the physiology of the estrous cycle in mares in order to encourage new research related to reproductive biotechnologies for horses.


El ciclo estral es la sincronía entre eventos de comportamiento, anatómicos y endocrinos que resultan en la ovulación, y se puede dividir en fase lútea y fase folicular. La identificación de las etapas del ciclo estral de la yegua puede ser acompañada a través de varias biotécnicas reproductivas como, por ejemplo, citología vaginal, clasificando los diferentes tipos de células del epitelio vaginal, ultrasonido para evaluación de la dinámica folicular y la dosificación hormonal en el plasma sanguíneo o de las heces del animal para caracterizar la fase del ciclo estral que el animal posiblemente se encuentra. Así, el objetivo de esta revisión ha sido examinar la fisiología del ciclo estral de yeguas, con el fin de fomentar nuevas investigaciones relacionadas con las biotecnologías reproductivas para equinos.


Assuntos
Feminino , Animais , Ciclo Estral/fisiologia , Ciclo Estral/metabolismo , Ultrassonografia , Ultrassonografia/veterinária , Fenômenos Reprodutivos Fisiológicos/genética
9.
Nat Rev Endocrinol ; 11(12): 725-34, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26460341

RESUMO

As age at pubertal onset declines and age at first pregnancy increases, the mechanisms that regulate female reproductive lifespan become increasingly relevant to population health. The timing of menarche and menopause can have profound effects not only on fertility but also on the risk of diseases such as type 2 diabetes mellitus, cardiovascular disease and breast cancer. Genetic studies have identified dozens of highly penetrant rare mutations associated with reproductive disorders, and also ∼175 common genetic variants associated with the timing of puberty or menopause. These findings, alongside other functional studies, have highlighted a diverse range of mechanisms involved in reproductive ageing, implicating core biological processes such as cell cycle regulation and energy homeostasis. The aim of this article is to review the contribution of such genetic findings to our understanding of the molecular regulation of reproductive timing, as well as the biological basis of the epidemiological links between reproductive ageing and disease risk.


Assuntos
Envelhecimento/fisiologia , Fenômenos Reprodutivos Fisiológicos , Adulto , Envelhecimento/genética , Feminino , Humanos , Pessoa de Meia-Idade , Gravidez , Puberdade , Fenômenos Reprodutivos Fisiológicos/genética , Maturidade Sexual
10.
Rev. iberoam. fertil. reprod. hum ; 32(2): 27-41, abr.-jun. 2015. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-144118

RESUMO

OBJETIVOS: El objetivo principal del presente estudio es obtener datos sobre la orientación sexual y los deseos reproductivos de una población española no seleccionada. Objetivos secundarios han sido recabar información sobre las actitudes sexuales de esa misma muestra poblacional, la visión de gays y lesbianas de sus posibilidades reproductivas y su relación con los centros públicos y privados de medicina reproductiva. MATERIAL Y MÉTODOS: Una encuesta diseñada a tal efecto fue implementada en el portal del Colectivo Lambda de la Comunidad Valenciana, en internet. El Colectivo Lambda ofreció su colaboración desinteresada y animó a sus miembros a cumplimentarla. Los centros de reproducción integrados en el Grupo EIRE solicitaron a sus pacientes la cumplimentación de la encuesta. Las respuestas a las distintas preguntas correspondientes a las 404 encuestas cumplimentadas fueron transportadas a una hoja Excel y, posteriormente, al programa SPSS, para su tratamiento estadístico. RESULTADOS: A partir de las respuestas obtenidas puede afirmarse que homosexualidad y bisexualidad no son situaciones excluyentes sino que entre homo y heterosexualidad existe una gradación. También ha sido confirmado que la gran mayoría de los individuos desea reproducirse, independientemente de su orientación sexual y que la aceptación de las técnicas de reproducción asistida para resolver los problemas reproductivos de lesbianas y gays, incluida la maternidad subrogada es amplia. En torno al 90% de los encuestados consideran que las personas o parejas LGTB tienen los mismos derechos a ser atendidos en los centros de sanidad pública que las parejas heterosexuales que padecen esterilidad. Considerando el determinismo de la orientación sexual de los seres humanos, es posible aceptar que gays, lesbianas y otros LGTB presentan esterilidad constitucional y que, como tal, deben ser ayudados a tener descendencia biológica sin menoscabo de su dignidad humana


OBJECTIVES: The main objective of this study was to obtain data on sexual orientation and reproductive desires of an un selected Spanish population formed by gays, lesbians, transsexuals and bisexuals (LGTB), without excluding heterosexual persons. Secondary objectives have been obtaining information about the sexual attitudes of this same population sample, as well as the view of gays and lesbians of their reproductive potential and their relationship with public and private reproductive medicine centers. MATERIAL AND METHODS: A survey designed to that effect was implemented on the portal of the Colectivo Lambda of Valencia, on the internet. The collective Lambda offered their generous collaboration and encouraged its members to fill it out. The centers of reproductive medicine integrated in the EIRE group asked their patients filling out the survey. The responses to the different questions corresponding to the 404 completed surveys were transported to an Excel worksheet and, later, to the program SPSS for statistical processing. RESULTS: From the answers it can be argued that homosexuality and bisexuality are not mutually exclusive situations but that between homo and heterosexuality there is a gradation. It has also been confirmed that the vast majority of individuals wish to reproduce, regardless of their sexual orientation and that assisted reproduction techniques are widely accepted to solve reproductive problems of lesbians and gays, including surrogate motherhood. Around 90% of respondents considered that persons or LGBT couples have the same rights to be cared for in reproductive centers of public health than heterosexual couples presenting infertility. Whereas the determinism of the sexual orientation of human beings, it is possible to accept that gays, lesbians and other LGBT present constitutional infertility and that, as such, they must be helped to have biological offspring without detriment to their human dignity


Assuntos
Feminino , Humanos , Masculino , Comportamento Sexual/classificação , Comportamento Sexual/psicologia , Fenômenos Reprodutivos Fisiológicos/genética , Fertilização In Vitro/instrumentação , Fertilização In Vitro/métodos , Homossexualidade/psicologia , Bissexualidade/psicologia , Transexualidade/psicologia , Coleta de Dados/métodos , Saúde Pública/métodos , Comportamento Sexual/estatística & dados numéricos , Fenômenos Reprodutivos Fisiológicos/ética , Espanha/etnologia , Fertilização In Vitro/normas , Fertilização In Vitro/tendências , Homossexualidade/fisiologia , Bissexualidade/fisiologia , Transexualidade/complicações , Coleta de Dados , Saúde Pública/normas
11.
PLoS Comput Biol ; 10(9): e1003836, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25232825

RESUMO

Identifying and quantifying the benefits of sex and recombination is a long-standing problem in evolutionary theory. In particular, contradictory claims have been made about the existence of a benefit of recombination on high dimensional fitness landscapes in the presence of sign epistasis. Here we present a comparative numerical study of sexual and asexual evolutionary dynamics of haploids on tunably rugged model landscapes under strong selection, paying special attention to the temporal development of the evolutionary advantage of recombination and the link between population diversity and the rate of adaptation. We show that the adaptive advantage of recombination on static rugged landscapes is strictly transitory. At early times, an advantage of recombination arises through the possibility to combine individually occurring beneficial mutations, but this effect is reversed at longer times by the much more efficient trapping of recombining populations at local fitness peaks. These findings are explained by means of well-established results for a setup with only two loci. In accordance with the Red Queen hypothesis the transitory advantage can be prolonged indefinitely in fluctuating environments, and it is maximal when the environment fluctuates on the same time scale on which trapping at local optima typically occurs.


Assuntos
Epistasia Genética/genética , Modelos Genéticos , Recombinação Genética/genética , Fenômenos Reprodutivos Fisiológicos/genética , Biologia Computacional , Evolução Molecular , Seleção Genética/genética
12.
Insect Mol Biol ; 23(3): 301-19, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24467643

RESUMO

Lygus hesperus females exhibit a post-mating behavioural switch that triggers increased egg laying and decreased sexual interest. In Drosophila melanogaster, these changes are controlled by sex peptide (SP) and the sex peptide receptor (DmSPR). In Helicoverpa armigera, SPR (HaSPR) also regulates some post-mating behaviour; however, myoinhibiting peptides (MIPs) have been identified as the SPR ancestral ligand, indicating that SPR is a pleiotropic receptor. In the present study, we identified a transcript, designated L. hesperus SPR (LhSPR), that is homologous to known SPRs and which is expressed throughout development and in most adult tissues. LhSPR was most abundant in female seminal depositories and heads as well as the hindgut/midgut of both sexes. In vitro analyses revealed that fluorescent chimeras of LhSPR, DmSPR and HaSPR localized to the cell surface of cultured insect cells, but only DmSPR and HaSPR bound carboxytetramethylrhodamine-labelled analogues of DmSP21-36 and DmMIP4. Injected DmSP21-36 also failed to have an effect on L. hesperus mating receptivity. Potential divergence in the LhSPR binding pocket may be linked to receptor-ligand co-evolution as 9 of 13 MIPs encoded by a putative L. hesperus MIP precursor exhibit an atypical W-X7 -Wamide motif vs the W-X6 -Wamide and W-X8 -Wamide motifs of Drosophila MIPs and SP.


Assuntos
Heterópteros/fisiologia , Fenômenos Reprodutivos Fisiológicos/genética , Comportamento Sexual Animal/fisiologia , Sequência de Aminoácidos , Animais , Sequência de Bases , Feminino , Expressão Gênica , Masculino , Dados de Sequência Molecular , Peptídeos , Receptores de Peptídeos
13.
Anim Biotechnol ; 23(1): 43-63, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22292700

RESUMO

BACKGROUND: Growth and carcass traits are of great economic importance in livestock production. A large number of quantitative trait loci (QTL) have been identified for growth and carcass traits on porcine chromosome one (SSC1). A key positional candidate for this chromosomal region is TGFBR1 (transforming growth factor beta type I receptor). This gene plays a key role in inherited disorders at cardiovascular, craniofacial, neurocognitive, and skeletal development in mammals. RESULTS: In this study, 27 polymorphic SNPs in the porcine TGFBR1 gene were identified on the University of Illinois Yorkshire × Meishan resource population. Three SNPs (SNP3, SNP43, SNP64) representing major polymorphic patterns of the 27 SNPs in F1 and F0 individuals of the Illinois population were selected for analyses of QTL association and genetic diversity. An association analysis for growth and carcass traits was completed using these three representative SNPs in the Illinois population with 298 F2 individuals and a large commercial population of 1008 animals. The results indicate that the TGFBR1 gene polymorphism (SNP64) is significantly associated (p < 0.05) with growth rates including average daily gains between birth and 56 kg (p = 0.049), between 5.5 and 56 kg (p = 0.024), between 35 and 56 kg (p = 0.021). Significant associations (p < 0.05) were also identified between TGFBR1 gene polymorphisms (SNP3/SNP43) and carcass traits including loin-eye-area (p = 0.022) in the Illinois population, and back-fat thickness (p = 0.0009), lean percentage (p = 0.0023) and muscle color (p = 0.021) in the commercial population. These three SNPs were also used to genotype a diverse panel of 130 animals representing 11 pig breeds. Alleles SNP3_T and SNP43_G were fixed in Pietrain and Sinclair pig breeds. SNP64_G allele was uniquely identified in Chinese Meishan pigs. Strong evidence of association (p < 0.01) between both SNP3 and SNP64 alleles and reproductive traits including gestation length and number of corpora lutea were also observed in the Illinois population. CONCLUSION: This study gives the first evidence of association between the porcine TGFBR1 gene and traits of economic importance and provides support for using TGFBR1 markers for pig breeding and selection programs. The genetic diversities in different pig breeds would be helpful to understand the genetic background and migration of the porcine TGFBR1 gene.


Assuntos
Composição Corporal/genética , Proteínas Serina-Treonina Quinases/genética , Receptores de Fatores de Crescimento Transformadores beta/genética , Fenômenos Reprodutivos Fisiológicos/genética , Suínos/fisiologia , Criação de Animais Domésticos/métodos , Animais , Feminino , Frequência do Gene , Análise dos Mínimos Quadrados , Masculino , Polimorfismo de Nucleotídeo Único/genética , Locos de Características Quantitativas , Receptor do Fator de Crescimento Transformador beta Tipo I , Suínos/genética , Suínos/crescimento & desenvolvimento
14.
PLoS Genet ; 8(1): e1002435, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22253601

RESUMO

Proteases and protease inhibitors have been identified in the ejaculates of animal taxa ranging from invertebrates to mammals and form a major protein class among Drosophila melanogaster seminal fluid proteins (SFPs). Other than a single protease cascade in mammals that regulates seminal clot liquefaction, no proteolytic cascades (i.e. pathways with at least two proteases acting in sequence) have been identified in seminal fluids. In Drosophila, SFPs are transferred to females during mating and, together with sperm, are necessary for the many post-mating responses elicited in females. Though several SFPs are proteolytically cleaved either during or after mating, virtually nothing is known about the proteases involved in these cleavage events or the physiological consequences of proteolytic activity in the seminal fluid on the female. Here, we present evidence that a protease cascade acts in the seminal fluid of Drosophila during and after mating. Using RNAi to knock down expression of the SFP CG10586, a predicted serine protease, we show that it acts upstream of the SFP CG11864, a predicted astacin protease, to process SFPs involved in ovulation and sperm entry into storage. We also show that knockdown of CG10586 leads to lower levels of egg laying, higher rates of sexual receptivity to subsequent males, and abnormal sperm usage patterns, processes that are independent of CG11864. The long-term phenotypes of females mated to CG10586 knockdown males are similar to those of females that fail to store sex peptide, an important elicitor of long-term post-mating responses, and indicate a role for CG10586 in regulating sex peptide. These results point to an important role for proteolysis among insect SFPs and suggest that protease cascades may be a mechanism for precise temporal regulation of multiple post-mating responses in females.


Assuntos
Drosophila melanogaster/enzimologia , Metaloendopeptidases/genética , Fenômenos Reprodutivos Fisiológicos/genética , Sêmen/enzimologia , Serina Proteases/genética , Espermatozoides/enzimologia , Animais , Proteínas de Drosophila/genética , Proteínas de Drosophila/metabolismo , Drosophila melanogaster/genética , Drosophila melanogaster/fisiologia , Feminino , Fertilidade/genética , Técnicas de Silenciamento de Genes , Peptídeos e Proteínas de Sinalização Intercelular , Masculino , Metaloendopeptidases/metabolismo , Metaloendopeptidases/fisiologia , Metaloproteases/genética , Metaloproteases/metabolismo , Ovulação/genética , Ovulação/fisiologia , Peptídeos/genética , Peptídeos/metabolismo , Fenótipo , Proteólise , Interferência de RNA , Sêmen/fisiologia , Serina Proteases/metabolismo , Serina Proteases/fisiologia , Comportamento Sexual Animal/fisiologia , Espermatozoides/fisiologia
15.
PLoS Genet ; 7(10): e1002320, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22028666

RESUMO

The transforming growth factor ß (TGFß) superfamily proteins are principle regulators of numerous biological functions. Although recent studies have gained tremendous insights into this growth factor family in female reproduction, the functions of the receptors in vivo remain poorly defined. TGFß type 1 receptor (TGFBR1), also known as activin receptor-like kinase 5, is the major type 1 receptor for TGFß ligands. Tgfbr1 null mice die embryonically, precluding functional characterization of TGFBR1 postnatally. To study TGFBR1-mediated signaling in female reproduction, we generated a mouse model with conditional knockout (cKO) of Tgfbr1 in the female reproductive tract using anti-Müllerian hormone receptor type 2 promoter-driven Cre recombinase. We found that Tgfbr1 cKO females are sterile. However, unlike its role in growth differentiation factor 9 (GDF9) signaling in vitro, TGFBR1 seems to be dispensable for GDF9 signaling in vivo. Strikingly, we discovered that the Tgfbr1 cKO females develop oviductal diverticula, which impair embryo development and transit of embryos to the uterus. Molecular analysis further demonstrated the dysregulation of several cell differentiation and migration genes (e.g., Krt12, Ace2, and MyoR) that are potentially associated with female reproductive tract development. Moreover, defective smooth muscle development was also revealed in the uteri of the Tgfbr1 cKO mice. Thus, TGFBR1 is required for female reproductive tract integrity and function, and disruption of TGFBR1-mediated signaling leads to catastrophic structural and functional consequences in the oviduct and uterus.


Assuntos
Desenvolvimento Embrionário/genética , Fator 9 de Diferenciação de Crescimento/metabolismo , Músculo Liso/crescimento & desenvolvimento , Proteínas Serina-Treonina Quinases/genética , Proteínas Serina-Treonina Quinases/metabolismo , Receptores de Fatores de Crescimento Transformadores beta/genética , Receptores de Fatores de Crescimento Transformadores beta/metabolismo , Fenômenos Reprodutivos Fisiológicos/genética , Útero/embriologia , Animais , Células Cultivadas , Divertículo/genética , Divertículo/patologia , Tubas Uterinas/metabolismo , Tubas Uterinas/patologia , Feminino , Fertilidade/genética , Fator 9 de Diferenciação de Crescimento/genética , Células HEK293 , Humanos , Integrases/metabolismo , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Músculo Liso/metabolismo , Progesterona/sangue , Receptor do Fator de Crescimento Transformador beta Tipo I , Receptores de Peptídeos/genética , Receptores de Peptídeos/metabolismo , Útero/anormalidades
16.
Genome ; 53(9): 698-709, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20924419

RESUMO

Brachiaria humidicola (Rendle) Schweick. is a warm-season grass commonly used as forage in the tropics. Accessions of this species were collected in eastern Africa and massively introduced into South America in the 1980s. Several of these accessions form a germplasm collection at the Brazilian Agricultural Research Corporation. However, apomixis, ploidy, and limited knowledge of the genetic basis of this germplasm collection have constrained breeding activities. The objectives of this work were to identify genetic variability in the Brazilian B. humidicola germplasm collection using microsatellite markers and to compare the results with information on the following: (1) collection sites of the accessions; (2) reproductive mode and ploidy levels; and (3) genetic diversity revealed by morphological traits. The evaluated germplasm population is highly structured into four major groups. The sole sexual accession did not group with any of the clusters. Genetic dissimilarities did not correlate with either geographic distances or genetic distances inferred from morphological descriptors. Additionally, the genetic structure identified in this collection did not correspond to differences in ploidy level. Alleles exclusive to either sexual or apomictic accessions were identified, suggesting that further evaluation of the association of these loci with apospory should be carried out.


Assuntos
Brachiaria/classificação , Brachiaria/genética , Variação Genética , Repetições de Microssatélites , África , Alelos , Brachiaria/anatomia & histologia , Brachiaria/fisiologia , Brasil , Análise Citogenética , DNA de Plantas/genética , Evolução Molecular , Genes de Plantas , Marcadores Genéticos , Genoma de Planta , Genótipo , Geografia , Fenótipo , Filogenia , Ploidias , Reação em Cadeia da Polimerase , Polimorfismo Genético , Poliploidia , Fenômenos Reprodutivos Fisiológicos/genética , Sementes
17.
Dev Genes Evol ; 220(5-6): 139-49, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20725841

RESUMO

In bivalve, the distribution of primordial germ cells can be traced from early embryogenesis to the veliger larva by the expression of the vasa ortholog. However, the distribution of germ cells from metamorphosis to maturation in bivalves has not been examined extensively. In this study, we used in situ hybridization to observe expression of the Mytilus galloprovincialis vasa-like gene (Myvlg). The distribution of germ cells was clarified in immature mussels. We observed germ cells in adult mussels during the non-reproductive and reproductive seasons. Myvlg was specifically expressed in germ cells. Gametogenesis occurs in acini surrounded by connective tissue. Myvlg expression was detected in spermatogonia, spermatocytes, oogonia, and oocytes. In the non-reproductive season, gametes were not observed in the acini, but Myvlg was expressed in germinal stem cells along the acini. The expression intensity in the non-reproductive season, however, was much weaker than that in the reproductive season. Myvlg-positive cells proliferated during the non-reproductive season. In immature mussels, a pair of germ cell clumps was distributed laterally in the connective tissue between the nephric tubules and posterior byssal retractor muscle. Germ cells were also observed along pericardium. When immature mussels grew, a pair of germ cell clumps migrated anteriorly in the connective tissue along the outer epithelium at the dorsal region of the mantle base between the mantle and gill. The number of germ cells increased significantly as the mussels grew. This is the first report to observe the proliferation and migration of germ cells in immature mussels.


Assuntos
RNA Helicases DEAD-box/genética , Gametogênese/fisiologia , Células Germinativas/fisiologia , Mytilus/citologia , Mytilus/crescimento & desenvolvimento , Sequência de Aminoácidos , Animais , Movimento Celular , Proliferação de Células , RNA Helicases DEAD-box/química , Expressão Gênica , Perfilação da Expressão Gênica , Regulação da Expressão Gênica no Desenvolvimento , Células Germinativas/citologia , Células Germinativas/metabolismo , Hibridização In Situ , Metamorfose Biológica , Mytilus/embriologia , Mytilus/genética , Reação em Cadeia da Polimerase , Fenômenos Reprodutivos Fisiológicos/genética
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