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1.
Proc Biol Sci ; 287(1935): 20201388, 2020 09 30.
Artigo em Inglês | MEDLINE | ID: mdl-32993470

RESUMO

The structure of a genome can be described at its simplest by the number of chromosomes and the sex chromosome system it contains. Despite over a century of study, the evolution of genome structure on this scale remains recalcitrant to broad generalizations that can be applied across clades. To address this issue, we have assembled a dataset of 823 karyotypes from the insect group Polyneoptera. This group contains orders with a range of variations in chromosome number, and offer the opportunity to explore the possible causes of these differences. We have analysed these data using both phylogenetic and taxonomic approaches. Our analysis allows us to assess the importance of rates of evolution, phylogenetic history, sex chromosome systems, parthenogenesis and genome size on variation in chromosome number within clades. We find that fusions play a key role in the origin of new sex chromosomes, and that orders exhibit striking differences in rates of fusions, fissions and polyploidy. Our results suggest that the difficulty in finding consistent rules that govern evolution at this scale may be due to the presence of many interacting forces that can lead to variation among groups.


Assuntos
Evolução Molecular , Insetos , Cromossomos Sexuais , Animais , Feminino , Tamanho do Genoma , Cariótipo , Partenogênese , Filogenia , Poliploidia
2.
BMC Evol Biol ; 20(1): 113, 2020 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-32883209

RESUMO

BACKGROUND: The study of speciation has expanded with the increasing availability and affordability of high-resolution genomic data. How the genome evolves throughout the process of divergence and which regions of the genome are responsible for causing and maintaining that divergence have been central questions in recent work. Here, we use three pairs of species from the recently diverged bee hummingbird clade to investigate differences in the genome at different stages of speciation, using divergence times as a proxy for the speciation continuum. RESULTS: Population measures of relative differentiation between hybridizing species reveal that different chromosome types diverge at different stages of speciation. Using FST as our relative measure of differentiation we found that the sex chromosome shows signs of divergence early in speciation. Next, small autosomes (microchromosomes) accumulate highly diverged genomic regions, while the large autosomes (macrochromosomes) accumulate genomic regions of divergence at a later stage of speciation. CONCLUSIONS: Our finding that genomic windows of elevated FST accumulate on small autosomes earlier in speciation than on larger autosomes is counter to the prediction that FST increases with size of chromosome (i.e. with decreased recombination rate), and is not represented when weighted average FST per chromosome is compared with chromosome size. The results of this study suggest that multiple chromosome characteristics such as recombination rate and gene density combine to influence the genomic locations of signatures of divergence.


Assuntos
Evolução Biológica , Aves/classificação , Especiação Genética , Animais , Cromossomos/genética , Genoma , Genômica , Hibridização Genética , Cromossomos Sexuais/genética
3.
Crit Care ; 24(1): 405, 2020 07 09.
Artigo em Inglês | MEDLINE | ID: mdl-32646459

RESUMO

More men than women have died from COVID-19. Genes encoded on X chromosomes, and sex hormones may explain the decreased fatality of COVID-19 in women. The angiotensin-converting enzyme 2 gene is located on X chromosomes. Men, with a single X chromosome, may lack the alternative mechanism for cellular protection after exposure to SARS-CoV-2. Some Toll-like receptors encoded on the X chromosomes can sense SARS-CoV-2 nucleic acids, leading to a stronger innate immunity response in women. Both estrogen and estrogen receptor-α contribute to T cell activation. Interventional approaches including estrogen-related compounds and androgen receptor antagonists may be considered in patients with COVID-19.


Assuntos
Infecções por Coronavirus/mortalidade , Disparidades nos Níveis de Saúde , Pneumonia Viral/mortalidade , Caracteres Sexuais , Feminino , Hormônios Esteroides Gonadais , Humanos , Imunidade Inata , Masculino , Pandemias , Cromossomos Sexuais/genética
5.
Proc Natl Acad Sci U S A ; 117(24): 13626-13636, 2020 06 16.
Artigo em Inglês | MEDLINE | ID: mdl-32487729

RESUMO

Humans homozygous or hemizygous for variants predicted to cause a loss of function (LoF) of the corresponding protein do not necessarily present with overt clinical phenotypes. We report here 190 autosomal genes with 207 predicted LoF variants, for which the frequency of homozygous individuals exceeds 1% in at least one human population from five major ancestry groups. No such genes were identified on the X and Y chromosomes. Manual curation revealed that 28 variants (15%) had been misannotated as LoF. Of the 179 remaining variants in 166 genes, only 11 alleles in 11 genes had previously been confirmed experimentally to be LoF. The set of 166 dispensable genes was enriched in olfactory receptor genes (41 genes). The 41 dispensable olfactory receptor genes displayed a relaxation of selective constraints similar to that observed for other olfactory receptor genes. The 125 dispensable nonolfactory receptor genes also displayed a relaxation of selective constraints consistent with greater redundancy. Sixty-two of these 125 genes were found to be dispensable in at least three human populations, suggesting possible evolution toward pseudogenes. Of the 179 LoF variants, 68 could be tested for two neutrality statistics, and 8 displayed robust signals of positive selection. These latter variants included a known FUT2 variant that confers resistance to intestinal viruses, and an APOL3 variant involved in resistance to parasitic infections. Overall, the identification of 166 genes for which a sizeable proportion of humans are homozygous for predicted LoF alleles reveals both redundancies and advantages of such deficiencies for human survival.


Assuntos
Genética Humana , Mutação com Perda de Função , Alelos , Apolipoproteínas L/genética , Fucosiltransferases/genética , Variação Genética , Homozigoto , Humanos , Proteínas/genética , Cromossomos Sexuais/genética
6.
Int Arch Allergy Immunol ; 181(8): 629-634, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32564017

RESUMO

The difference between the female and male immune response to COVID-19 infection, and infections in general, is multifactorial. The well-known determiners of the immune response, such as X and Y chromosomes, sex hormones, and microbiota, are functionally interconnected and influence each other in shaping the organism's immunity. We focus our commentary on the interplay between the genetic sex and mitochondria and how this may affect a sex-dependent immune response in COVID-19 infection. Realizing the existence of these interactions may help in designing novel methods or fine-tuning the existing and routine therapies to fight COVID-19 and other infections.


Assuntos
Betacoronavirus , Infecções por Coronavirus/imunologia , Mitocôndrias/fisiologia , Pneumonia Viral/imunologia , Cromossomos Sexuais/fisiologia , Infecções por Coronavirus/tratamento farmacológico , Feminino , Humanos , Masculino , Melatonina/uso terapêutico , Pandemias , Pneumonia Viral/tratamento farmacológico , Caracteres Sexuais
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(6): 617-620, 2020 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-32472536

RESUMO

OBJECTIVE: To study the influence of maternal sex chromosomal abnormalities on the prediction of fetal sex chromosome abnormalities (SCAs) by non-invasive prenatal testing (NIPT). METHODS: Thirty-six pregnant women with a prediction for fetal SCAs by NIPT were verified as false positive after prenatal diagnosis using amniotic fluid samples. With informed consent, these women were subjected to chromosomal karyotyping or copy number variations (CNVs) analysis through high-throughput sequencing. RESULTS: Sex chromosomal abnormalities were found in 8 women, which yielded an abnormal rate of 22.22% (8/36). Among these, 3 had sex chromosome aneuploidies (47, XXX), 4 had sex chromosome mosaicisms, and 1 carried structural chromosomal abnormalities. Reanalysis of the results of NIPT were consistent with the maternal CNVs by large. With the ratio of cffDNA (ChrX)/cffDNA was more than 2, 6 of the eight women were found to harbor sex chromosome abnormalities, and the fetal karyotype was normal. However, with a ratio of less than 2, only 2 of the 38 pregnant women had sex chromosome abnormalities, and 10 of the fetuses were confirmed as positive. CONCLUSION: The presence of maternal sex chromosomal abnormalities can greatly influence the result of NIPT, which may also be an important reason for false prediction for fetal SCAs by NIPT. When NIPT indicates abnormal SCAs, it is necessary to analyze maternal sex chromosomes. The ratio of cffDNA(ChrX)/cffDNA may help to determine the source of abnormal signals.


Assuntos
Aneuploidia , Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal , Cromossomos Sexuais
8.
Nat Commun ; 11(1): 2179, 2020 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-32358487

RESUMO

Genomic outcomes of hybridization depend on selection and recombination in hybrids. Whether these processes have similar effects on hybrid genome composition in contemporary hybrid zones versus ancient hybrid lineages is unknown. Here we show that patterns of introgression in a contemporary hybrid zone in Lycaeides butterflies predict patterns of ancestry in geographically adjacent, older hybrid populations. We find a particularly striking lack of ancestry from one of the hybridizing taxa, Lycaeides melissa, on the Z chromosome in both the old and contemporary hybrids. The same pattern of reduced L. melissa ancestry on the Z chromosome is seen in two other ancient hybrid lineages. More generally, we find that patterns of ancestry in old or ancient hybrids are remarkably predictable from contemporary hybrids, which suggests selection and recombination affect hybrid genomes in a similar way across disparate time scales and during distinct stages of speciation and species breakdown.


Assuntos
Borboletas/genética , Hibridização Genética/genética , Cromossomos Sexuais/genética , Animais , Fluxo Gênico , Loci Gênicos , Especiação Genética , Genética Populacional , Genoma de Inseto , Genômica , Filogenia , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA
9.
Nat Ecol Evol ; 4(6): 853-862, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32313175

RESUMO

Heterochromatin suppresses repetitive DNA, and a loss of heterochromatin has been observed in aged cells of several species, including humans and Drosophila. Males often contain substantially more heterochromatic DNA than females, due to the presence of a large, repeat-rich Y chromosome, and male flies generally have a shorter average lifespan than females. Here we show that repetitive DNA becomes de-repressed more rapidly in old male flies relative to females, and repeats on the Y chromosome are disproportionally mis-expressed during ageing. This is associated with a loss of heterochromatin at repetitive elements during ageing in male flies, and a general loss of repressive chromatin in aged males away from pericentromeric regions and the Y. By generating flies with different sex chromosome karyotypes (XXY females and X0 and XYY males), we show that repeat de-repression and average lifespan is correlated with the number of Y chromosomes. This suggests that sex-specific chromatin differences may contribute to sex-specific ageing in flies.


Assuntos
Drosophila/genética , Cromossomo Y , Envelhecimento , Animais , Cromatina , Feminino , Humanos , Masculino , Cromossomos Sexuais
10.
PLoS One ; 15(4): e0230930, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32267870

RESUMO

Human epidemiological studies have shown that paternal aging as one of the risk factors for neurodevelopmental disorders, such as autism, in offspring. A recent study has suggested that factors other than de novo mutations due to aging can influence the biology of offspring. Here, we focused on epigenetic alterations in sperm that can influence developmental programs in offspring. In this study, we qualitatively and semiquantitatively evaluated histone modification patterns in male germline cells throughout spermatogenesis based on immunostaining of testes taken from young (3 months old) and aged (12 months old) mice. Although localization patterns were not obviously changed between young and aged testes, some histone modification showed differences in their intensity. Among histone modifications that repress gene expression, histone H3 lysine 9 trimethylation (H3K9me3) was decreased in the male germline cells of the aged testis, while H3K27me2/3 was increased. The intensity of H3K27 acetylation (ac), an active mark, was lower/higher depending on the stages in the aged testis. Interestingly, H3K27ac was detected on the putative sex chromosomes of round spermatids, while other chromosomes were occupied by a repressive mark, H3K27me3. Among other histone modifications that activate gene expression, H3K4me2 was drastically decreased in the male germline cells of the aged testis. In contrast, H3K79me3 was increased in M-phase spermatocytes, where it accumulates on the sex chromosomes. Therefore, aging induced alterations in the amount of histone modifications and in the differences of patterns for each modification. Moreover, histone modifications on the sex chromosomes and on other chromosomes seems to be differentially regulated by aging. These findings will help elucidate the epigenetic mechanisms underlying the influence of paternal aging on offspring development.


Assuntos
Histonas/genética , Meiose/genética , Espermatócitos/fisiologia , Espermatogênese/genética , Testículo/fisiologia , Acetilação , Animais , Epigênese Genética/genética , Epigenômica/métodos , Expressão Gênica/genética , Código das Histonas/genética , Humanos , Lisina/genética , Masculino , Metilação , Camundongos , Processamento de Proteína Pós-Traducional/genética , Cromossomos Sexuais/genética , Espermátides/fisiologia
11.
Biol Lett ; 16(4): 20200082, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32315592

RESUMO

Sex chromosomes in birds have long been considered to be extremely stable. However, this notion has lately been challenged by findings of independent autosome-sex chromosome fusions within songbirds, several of which occur within a single clade, the superfamily Sylvioidea. To understand what ecological and evolutionary processes drive changes in sex chromosome systems, we need complete descriptions of sex chromosome diversity across taxonomic groups. Here, we characterize the sex chromosome systems across Sylvioidea using whole-genome data of species representatives of 10 different families, including two published and eight new genomes. We describe a novel fusion in the family Cisticolidae (represented by Cisticola juncidis) involving a part of chromosome 4. We also confirm the previously identified fusion between chromosome Z and a part of chromosome 4A in all 10 families and show that fusions involving parts of chromosomes 3 and 5 are not found outside the families where they were first discovered (Alaudidae and Panuridae). These findings add to the complexity of the sex chromosome system in Sylvioidea, where four independent autosome-sex chromosome fusions have now been identified.


Assuntos
Passeriformes , Aves Canoras , Animais , Evolução Biológica , Genoma , Cromossomos Sexuais/genética , Aves Canoras/genética
12.
Zoolog Sci ; 37(2): 128-139, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32282144

RESUMO

The family Sicariidae comprises the genera Hexophthalma, Sicarius and Loxosceles. This latter is subdivided in eight monophyletic groups based on genitalia morphology and molecular analyses: amazonica, gaucho, laeta, and spadicea (South America); reclusa (North America); rufescens (Mediterranean); spinulosa and vonwredei (Africa). In Brazil, the genus Loxosceles is represented by 50 species. The mitotic and meiotic characteristics of eight Loxosceles species were analyzed in order to discuss the chromosome evolution, as well as the correspondence between cytogenetic data and morphological/molecular data for the delimitation of the South American groups of species belonging to this genus. All species studied in this work showed 2n♂ = 23, including a X1X2Y sex chromosome system (SCS). Despite the similarity of diploid number and SCS, the species studied here differed regarding the chromosome morphology of some autosomal pairs, presence of secondary constrictions, size of X chromosomes and localization of Ag-NOR/rDNA sites. Based on all these chromosomal data, we verified a close relationship between Loxosceles species belonging to the amazonica and gaucho groups. Transmission electron microscopy (TEM) analysis of spread pachytene cells of L. gaucho showed regular synapsis between homologous autosomal chromosomes, but asynaptic behavior of the sex chromosomes. The axial elements of the sex chromosomes undergo conspicuous morphological modifications resulting in shortening of their length.


Assuntos
Cromossomos Sexuais/classificação , Aranhas/classificação , Aranhas/genética , Animais , Brasil , Feminino , Masculino , Meiose , Microscopia Eletrônica de Transmissão , Mitose , Cromossomos Sexuais/fisiologia , Cromossomos Sexuais/ultraestrutura , Especificidade da Espécie
13.
Nat Commun ; 11(1): 1964, 2020 04 23.
Artigo em Inglês | MEDLINE | ID: mdl-32327641

RESUMO

Sex determination mechanisms often differ even between related species yet the evolution of sex chromosomes remains poorly understood in all but a few model organisms. Some nematodes such as Caenorhabditis elegans have an XO sex determination system while others, such as the filarial parasite Brugia malayi, have an XY mechanism. We present a complete B. malayi genome assembly and define Nigon elements shared with C. elegans, which we then map to the genomes of other filarial species and more distantly related nematodes. We find a remarkable plasticity in sex chromosome evolution with several distinct cases of neo-X and neo-Y formation, X-added regions, and conversion of autosomes to sex chromosomes from which we propose a model of chromosome evolution across different nematode clades. The phylum Nematoda offers a new and innovative system for gaining a deeper understanding of sex chromosome evolution.


Assuntos
Evolução Molecular , Nematoides/genética , Infecções por Nematoides/parasitologia , Cromossomos Sexuais/genética , Animais , Brugia Malayi/genética , Caenorhabditis elegans/genética , Mapeamento Cromossômico , Feminino , Regulação da Expressão Gênica , Genoma Helmíntico/genética , Humanos , Masculino , Nematoides/classificação , Sequências Repetitivas de Ácido Nucleico/genética , Processos de Determinação Sexual/genética
14.
Cytogenet Genome Res ; 160(3): 118-123, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32248198

RESUMO

We present 2 cases of double mosaic aneuploidy harboring 2 or more different aneuploid cell lines, but no line with a normal chromosome constitution. One of these cases presented mosaicism of sex chromosome aneuploid cell lines (47,XXX/45,X) along with another line containing an autosomal trisomy (47,XX,+8), while the other case showed mosaicism of 2 different autosomal trisomy cell lines (47,XY,+5 and 47,XY,+8). To elucidate the mechanisms underlying these mosaicisms, we conducted molecular cytogenetic analyses. Genotyping data from the SNP microarray indicated that 2 sequential meiotic or early postzygotic segregation errors likely had occurred followed by natural selection. These cases suggest that frequent segregation errors and selection events in the meiotic and early postzygotic stages lead to this condition.


Assuntos
Linhagem da Célula/genética , Mosaicismo , Cromossomos Sexuais/genética , Trissomia/genética , Aneuploidia , Análise Citogenética , Feminino , Humanos , Lactente , Pessoa de Meia-Idade , Trissomia/patologia
16.
PLoS One ; 15(4): e0231324, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32267867

RESUMO

Ctenidae represents one of the most representative spider families in the tropical forests of Brazil. Its largest genus, Ctenus, has approximately 220 species out of the more than 520 Ctenidae species described, and several authors consider it polyphyletic. Chromosomal data are only available for four species of Ctenus, representing a large gap in the cytogenetic knowledge about the group. This study provided cytogenetic data on two Ctenus species and one Guasuctenus (previously described as Ctenus). All showed 2n♂ = 28 (26+X1X20). Guasuctenus longipes presented two chromosome pairs containing 18S rDNA genes and C. medius, however C. ornatus showed only one chromosome pair with the 18S rDNA gene. Hybridization data using histone H3 probe indicated specific profiles: histone H3 genes were found in one chromosome pair in G. longipes, in three pairs in C. medius, and in four pairs in C. ornatus. Furthermore, supernumerary chromosomes were identified in C. ornatus presenting a meiotic behavior similar to that of sex chromosomes; and a trivalent was found in C. medius, formed by the association of one sex chromosome and an autosomal bivalent, indicating the importance of these events for the diversification of sex chromosomes in spiders. The C-banding pattern was similar between C. medius and C. ornatus with regard to the number and locations of heterochromatic bands, suggesting that heterochromatin amplification and dispersion, affect karyotypic evolution in the genus. Cytogenetic data showed similarity between C. medius and C. ornatus, and differentiation of G. longipes congruent with morphological data. Moreover, although more comparative analyses are needed to specify composition of the dispersed heterochromatin in Ctenus, the mapping of heterochromatic bands provided insights about the evolution of the karyotypes in this genus.


Assuntos
Evolução Molecular , Heterocromatina/genética , Histonas/genética , RNA Ribossômico 18S/genética , Aranhas/genética , Animais , Mapeamento Cromossômico , Feminino , Heterocromatina/metabolismo , Hibridização in Situ Fluorescente , Cariótipo , Masculino , Meiose , Cromossomos Sexuais/genética
17.
Sci Rep ; 10(1): 4276, 2020 03 09.
Artigo em Inglês | MEDLINE | ID: mdl-32152354

RESUMO

Turtles demonstrate variability in sex determination and, hence, constitute an excellent model for the evolution of sex chromosomes. Notably, the sex determination of the freshwater turtles from the family Chelidae, a species-rich group with wide geographical distribution in the southern hemisphere, is still poorly explored. Here we documented the presence of an XX/XY sex determination system in seven species of the Australasian chelid genera Chelodina, Emydura, and Elseya by conventional (karyogram reconstruction, C-banding) and molecular cytogenetic methods (comparative genome hybridization, in situ hybridization with probes specific for GATA microsatellite motif, the rDNA loci, and the telomeric repeats). The sex chromosomes are microchromosomes in all examined species of the genus Chelodina. In contrast, the sex chromosomes are the 4th largest pair of macrochromosomes in the genera Emydura and Elseya. Their X chromosomes are submetacentric, while their Y chromosomes are metacentric. The chelid Y chromosomes contain a substantial male-specific genomic region with an accumulation of the GATA microsatellite motif, and occasionally, of the rDNA loci and telomeric repeats. Despite morphological differences between sex chromosomes, we conclude that male heterogamety was likely already present in the common ancestor of Chelodina, Emydura and Elseya in the Mesozoic period.


Assuntos
Evolução Molecular , Genoma , Cromossomos Sexuais/genética , Cromossomo X/genética , Cromossomo Y/genética , Animais , Feminino , Cariótipo , Masculino , Repetições de Microssatélites , Processos de Determinação Sexual , Tartarugas
18.
Evolution ; 74(4): 793-794, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32196651

RESUMO

What evolutionary processes shaped the genomic landscape of differentiation in Selasphorus hummingbirds? Battey shows that the islands of differentiation on the Z chromosome are most likely the outcome of linked selection. Furthermore, these islands might contain barrier loci that contribute to reproductive isolation between these hybridizing hummingbirds.


Assuntos
Ilhas Genômicas , Seleção Genética , Animais , Genoma , Isolamento Reprodutivo , Cromossomos Sexuais/genética
19.
Acta Obstet Gynecol Scand ; 99(6): 722-730, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32176318

RESUMO

INTRODUCTION: Noninvasive prenatal testing (NIPT) using cell-free fetal DNA has increasingly been adopted as a screening tool for fetal aneuploidies. Several studies have discussed benefits and limitations of NIPT compared with both ultrasound and invasive procedures, but in spite of some shortcomings NIPT has become extensively used within the last 5 years. This study aims to describe the current use of NIPT in Europe, Australia and the USA. MATERIAL AND METHODS: We conducted a survey to describe the current use of NIPT. Colleagues filled in a simple email-based questionnaire on NIPT in their own country, providing information on (a) access to NIPT, (b) NIPT's chromosomal coverage, (c) financial coverage of NIPT for the patient and (d) the proportion of women using NIPT in pregnancy. Some data are best clinical estimates, due to a lack of national data. RESULTS: In Europe, 14 countries have adopted NIPT into a national policy/program. Two countries (Belgium and the Netherlands) offer NIPT for all pregnant women, whereas most other European countries have implemented NIPT as an offer for higher risk women after first trimester screening. In Australia, either combined first trimester screening (cFTS) or NIPT is used as a primary prenatal screening test. In the USA, there are no national consensus policies on the use of NIPT; however, NIPT is widely implemented. In most European countries offering NIPT, the proportion of women using NIPT is well below 25%. In the Netherlands, Austria, Italy, Spain and most Australian and American States, 25%-50% of women have NIPT performed and in Belgium testing is above 75%. In most countries, NIPT reports on trisomy 13, 18 and 21, and often also on sex chromosome aneuploidies. Only in Belgium, the Netherlands, Lithuania, Greece, Cyprus and Italy is NIPT offered predominantly as a genome-wide test (including some microdeletions or a whole genome coverage). CONCLUSIONS: Noninvasive prenatal testing has been widely adopted throughout Europe, Australia and the USA, but only a few countries/states have a national policy on the use of NIPT. The variation in NIPT utilization is considerable.


Assuntos
Teste Pré-Natal não Invasivo/estatística & dados numéricos , Aneuploidia , Austrália , Europa (Continente) , Feminino , Política de Saúde , Humanos , Gravidez , Diagnóstico Pré-Natal , Cromossomos Sexuais , Inquéritos e Questionários , Trissomia , Estados Unidos
20.
Cytogenet Genome Res ; 160(3): 141-147, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32146462

RESUMO

Most eukaryotic genomes contain substantial portions of repetitive DNA sequences. These are located primarily in highly compacted heterochromatin and, in many cases, are one of the most abundant components of the sex chromosomes. In this sense, the anuran Proceratophrys boiei represents an interesting model for analyses on repetitive sequences by means of cytogenetic techniques, since it has a karyotype with large blocks of heterochromatin and a ZZ/ZW sex chromosome system. The present study describes, for the first time, families of satellite DNA (satDNA) in the frog P. boiei. Its genome size was estimated at 1.6 Gb, of which 41% correspond to repetitive sequences, including satDNAs, rDNAs, transposable elements, and other elements characterized as non-repetitive. The satDNAs were mapped by FISH in the centromeric and pericentromeric regions of all chromosomes, suggesting a possible involvement of these sequences in centromere function. SatDNAs are also present in the W sex chromosome, occupying the entire heterochromatic area, indicating a probable contribution of this class of repetitive DNA to the differentiation of the sex chromosomes in this species. This study is a valuable contribution to the existing knowledge on repetitive sequences in amphibians. We show the presence of repetitive DNAs, especially satDNAs, in the genome of P. boiei that might be of relevance in genome organization and regulation, setting the stage for a deeper functional genome analysis of Proceratophrys.


Assuntos
Anuros/genética , DNA Satélite/genética , Genoma/genética , Cromossomos Sexuais/genética , Animais , Centrômero/genética , Evolução Molecular , Heterocromatina/genética , Hibridização in Situ Fluorescente , Filogenia , Sequências Repetitivas de Ácido Nucleico/genética , Análise de Sequência de DNA
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