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1.
Elife ; 102021 10 04.
Artigo em Inglês | MEDLINE | ID: mdl-34606444

RESUMO

The mammalian Y chromosome is critical for male sex determination and spermatogenesis. However, linking each Y gene to specific aspects of male reproduction has been challenging. As the Y chromosome is notoriously hard to sequence and target, functional studies have mostly relied on transgene-rescue approaches using mouse models with large multi-gene deletions. These experimental limitations have oriented the field toward the search for a minimum set of Y genes necessary for male reproduction. Here, considering Y-chromosome evolutionary history and decades of discoveries, we review the current state of research on its function in spermatogenesis and reassess the view that many Y genes are disposable for male reproduction.


Assuntos
Mamíferos/fisiologia , Espermatogênese/genética , Cromossomo Y/genética , Cromossomo Y/fisiologia , Animais , Evolução Biológica , Humanos , Masculino , Mamíferos/genética , Camundongos , Espermatogênese/fisiologia
2.
PLoS Genet ; 17(8): e1009704, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34370728

RESUMO

The sex chromosome pairs of many species do not undergo genetic recombination, unlike the autosomes. It has been proposed that the suppressed recombination results from natural selection favouring close linkage between sex-determining genes and mutations on this chromosome with advantages in one sex, but disadvantages in the other (these are called sexually antagonistic mutations). No example of such selection leading to suppressed recombination has been described, but populations of the guppy display sexually antagonistic mutations (affecting male coloration), and would be expected to evolve suppressed recombination. In extant close relatives of the guppy, the Y chromosomes have suppressed recombination, and have lost all the genes present on the X (this is called genetic degeneration). However, the guppy Y occasionally recombines with its X, despite carrying sexually antagonistic mutations. We describe evidence that a new Y evolved recently in the guppy, from an X chromosome like that in these relatives, replacing the old, degenerated Y, and explaining why the guppy pair still recombine. The male coloration factors probably arose after the new Y evolved, and have already evolved expression that is confined to males, a different way to avoid the conflict between the sexes.


Assuntos
Proteínas de Peixes/genética , Poecilia/genética , Pigmentação da Pele/genética , Cromossomo Y/genética , Animais , Evolução Molecular , Masculino , Recombinação Genética , Seleção Genética , Cromossomo X/genética
3.
J Equine Vet Sci ; 102: 103458, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34119210

RESUMO

Having considered that the current methods are costly and time-consuming, we designed an only 3 pairs primer-based PCR test to accurately identify the species and gender in horses, donkeys, mules and hinnies. Through a thorough sequence comparison between horse and donkey's highly similar genomes, and a vast amount of preliminary confirmation, we found that three fragments, CNGB3 gene on an autosome, displacement loop region on mitochondrial DNA and SRY genes on chromosome Y, within these equine DNA, are enough to enable us achieving our goal. The PCR test described here would be an economical, fast and accurate alternative for the most commonly-used methods, polymerase chain reaction-restriction fragment length polymorphism, microsatellite assay, and sequencing.


Assuntos
Equidae , Cromossomo Y , Animais , Equidae/genética , Cavalos/genética , Repetições de Microssatélites/genética , Reação em Cadeia da Polimerase/veterinária , Polimorfismo de Fragmento de Restrição
5.
PLoS Genet ; 17(6): e1009655, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34181646

RESUMO

During spermatogenesis, the process in which sperm for fertilization are produced from germline cells, gene expression is spatiotemporally highly regulated. In Drosophila, successful expression of extremely large male fertility factor genes on Y-chromosome spanning some megabases due to their gigantic intron sizes is crucial for spermatogenesis. Expression of such extremely large genes must be challenging, but the molecular mechanism that allows it remains unknown. Here we report that a novel RNA-binding protein Maca, which contains two RNA-recognition motifs, is crucial for this process. maca null mutant male flies exhibited a failure in the spermatid individualization process during spermatogenesis, lacked mature sperm, and were completely sterile, while maca mutant female flies were fully fertile. Proteomics and transcriptome analyses revealed that both protein and mRNA abundance of the gigantic male fertility factor genes kl-2, kl-3, and kl-5 (kl genes) are significantly decreased, where the decreases of kl-2 are particularly dramatic, in maca mutant testes. Splicing of the kl-3 transcripts was also dysregulated in maca mutant testes. All these physiological and molecular phenotypes were rescued by a maca transgene in the maca mutant background. Furthermore, we found that in the control genetic background, Maca is exclusively expressed in spermatocytes in testes and enriched at Y-loop A/C in the nucleus, where the kl-5 primary transcripts are localized. Our data suggest that Maca increases transcription processivity, promotes successful splicing of gigantic introns, and/or protects transcripts from premature degradation, of the kl genes. Our study identified a novel RNA-binding protein Maca that is crucial for successful expression of the gigantic male fertility factor genes, spermatogenesis, and male fertility.


Assuntos
Drosophila melanogaster/genética , Proteínas de Ligação a RNA/genética , Espermátides/metabolismo , Espermatócitos/metabolismo , Espermatogênese/genética , Transcriptoma , Animais , Drosophila melanogaster/citologia , Drosophila melanogaster/metabolismo , Feminino , Fertilidade/genética , Regulação da Expressão Gênica , Ontologia Genética , Genes Reporter , Teste de Complementação Genética , Proteínas de Fluorescência Verde/genética , Proteínas de Fluorescência Verde/metabolismo , Masculino , Anotação de Sequência Molecular , Mutação , Proteínas de Ligação a RNA/metabolismo , Espermátides/citologia , Espermátides/crescimento & desenvolvimento , Espermatócitos/citologia , Espermatócitos/crescimento & desenvolvimento , Testículo/citologia , Testículo/metabolismo , Cromossomo Y/química
6.
Anim Genet ; 52(5): 725-729, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34157133

RESUMO

In this article, we analyzed pedigree information on males from 12 bovine breeds born in France between 2015 and 2019. We report an overall small number of paternal lineages with, for example, a minimal number of ancestors accounting for 95% of the Y-chromosome pool of their breed ranging from only 2 to 15 individuals. Then, we mined whole-genome sequence data from 811 sires (2 ≤ n ≤ 510 per breed) and built a median-joining network using 1411 SNPs. Most branches were breed-specific and in agreement with the geographic and genetic relatedness of these populations. The within-breed haplotype diversity was lower than expected based on genealogical information, which supports the existence of major male founder effects predating pedigree recording. In addition, we observed de novo mutation events among the descendants of the same ancestors, which are of interest to define paternal sub-lineages. Our results pave the way to future studies on the estimation of the effects of Y-chromosome haplotypes on male reproductive performances and on the conservation of Y-chromosome diversity.


Assuntos
Bovinos/genética , Cromossomo Y/genética , Animais , Cruzamento , Efeito Fundador , França , Haplótipos , Masculino , Linhagem , Polimorfismo de Nucleotídeo Único , Sequenciamento Completo do Genoma/veterinária
7.
Cell Mol Life Sci ; 78(13): 5415-5425, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34047803

RESUMO

Functional elucidation of bovine Y-chromosome genes requires available genome editing technologies. Meanwhile, it has yet to be proven whether the bovine Sry gene is the main or single factor involved in the development of the male phenotype in bovine. Here, we efficiently knocked out four Y-linked genes (Sry, ZFY, DDX3Y, and EIF2S3Y) in bovine fetal fibroblasts (BFFs) with transcription activator-like effector nucleases (TALENs) individually. Furthermore, we used TALEN-mediated gene knockin at the Sry gene and generated a sex-reversal bovine by somatic cell nuclear transfer (SCNT). The resulting bovine had only one ovary and was sterile. We demonstrate, for the first time, that the Sry gene is an important sex-determining gene in bovine. Our method lays a solid foundation for detecting the biology of the bovine Y chromosome, as it may provide an alternative biological model system for the study of mammalian sex determination, and new methods for the practical application in agricultural, especially for sex predetermination.


Assuntos
Técnicas de Introdução de Genes/métodos , Técnicas de Transferência Nuclear , Diferenciação Sexual , Proteína da Região Y Determinante do Sexo/genética , Nucleases dos Efetores Semelhantes a Ativadores de Transcrição/metabolismo , Cromossomo Y/genética , Animais , Sequência de Bases , Bovinos , Feminino , Masculino , Homologia de Sequência , Processos de Determinação Sexual , Nucleases dos Efetores Semelhantes a Ativadores de Transcrição/genética
8.
Science ; 372(6542): 592-600, 2021 05 07.
Artigo em Inglês | MEDLINE | ID: mdl-33958470

RESUMO

The mammalian sex chromosome system (XX female/XY male) is ancient and highly conserved. The sex chromosome karyotype of the creeping vole (Microtus oregoni) represents a long-standing anomaly, with an X chromosome that is unpaired in females (X0) and exclusively maternally transmitted. We produced a highly contiguous male genome assembly, together with short-read genomes and transcriptomes for both sexes. We show that M. oregoni has lost an independently segregating Y chromosome and that the male-specific sex chromosome is a second X chromosome that is largely homologous to the maternally transmitted X. Both maternally inherited and male-specific sex chromosomes carry fragments of the ancestral Y chromosome. Consequences of this recently transformed sex chromosome system include Y-like degeneration and gene amplification on the male-specific X, expression of ancestral Y-linked genes in females, and X inactivation of the male-specific chromosome in male somatic cells. The genome of M. oregoni elucidates the processes that shape the gene content and dosage of mammalian sex chromosomes and exemplifies a rare case of plasticity in an ancient sex chromosome system.


Assuntos
Cariótipo Anormal , Arvicolinae/genética , Processos de Determinação Sexual/genética , Cromossomo X/genética , Animais , Sequência de Bases , Feminino , Amplificação de Genes , Genes sry , Haplótipos , Masculino , Herança Materna , Inativação do Cromossomo X , Cromossomo Y/genética
9.
J Proteome Res ; 20(6): 3031-3042, 2021 06 04.
Artigo em Inglês | MEDLINE | ID: mdl-34009990

RESUMO

The aim of this study was to understand the molecular mechanisms behind the biological differences of X- and Y-sperm and to screen the sex-specific candidate antigen proteins for sexed semen production. To this end, we investigated differential expression of total membrane proteins of the two sperm types by using high-purity X- and Y-sperm from 20 Holstein bulls and applying the label-free proteomic technique; 1521 proteins were identified. In the X-sperm group, 8 and 23 proteins were significantly up- and down-regulated, respectively. In the X- and the Y-sperm group, 151 and 88 proteins were specifically expressed, respectively. These were overexpressed in the dynamic changes of the actin cytoskeleton, and cell senescence/apoptosis induced by the immune response, and could result in differences in the state, size, and immune sensitivity of the X-/Y-sperm membranes. The prediction of transmembrane structure, subcellular localization, and Western blotting validation results showed that the CLRN3 and SCAMP1 proteins were cell surface specific antigens of X- and Y-sperm, respectively. Our findings help explain the molecular mechanism behind the biological differences of X-/Y-sperm and lay the foundation for application of immunological methods to produce sex-sorted semen and control livestock sex. Data are available via ProteomeXchange with identifier PXD019435.


Assuntos
Pré-Seleção do Sexo , Cromossomo Y , Animais , Bovinos , Feminino , Masculino , Proteínas de Membrana/genética , Proteômica , Espermatozoides , Cromossomo X
11.
Nat Ecol Evol ; 5(7): 939-948, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33958755

RESUMO

Loss of recombination between sex chromosomes often depletes Y chromosomes of functional content and genetic variation, which might limit their potential to generate adaptive diversity. Males of the freshwater fish Poecilia parae occur as one of five discrete morphs, all of which shoal together in natural populations where morph frequency has been stable for over 50 years. Each morph uses a different complex reproductive strategy and morphs differ dramatically in colour, body size and mating behaviour. Morph phenotype is passed perfectly from father to son, indicating there are five Y haplotypes segregating in the species, which encode the complex male morph characteristics. Here, we examine Y diversity in natural populations of P. parae. Using linked-read sequencing on multiple P. parae females and males of all five morphs, we find that the genetic architecture of the male morphs evolved on the Y chromosome after recombination suppression had occurred with the X. Comparing Y chromosomes between each of the morphs, we show that, although the Ys of the three minor morphs that differ in colour are highly similar, there are substantial amounts of unique genetic material and divergence between the Ys of the three major morphs that differ in reproductive strategy, body size and mating behaviour. Altogether, our results suggest that the Y chromosome is able to overcome the constraints of recombination loss to generate extreme diversity, resulting in five discrete Y chromosomes that control complex reproductive strategies.


Assuntos
Poecilia , Animais , Feminino , Água Doce , Masculino , Poecilia/genética , Polimorfismo Genético , Reprodução/genética , Cromossomo Y/genética
12.
Nat Rev Genet ; 22(8): 480-481, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33948038
13.
PLoS Genet ; 17(4): e1009438, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33886541

RESUMO

Sex-specific differences in lifespan are prevalent across the tree of life and influenced by heteromorphic sex chromosomes. In species with XY sex chromosomes, females often outlive males. Males and females can differ in their overall repeat content due to the repetitive Y chromosome, and repeats on the Y might lower survival of the heterogametic sex (toxic Y effect). Here, we take advantage of the well-assembled young Y chromosome of Drosophila miranda to study the sex-specific dynamics of chromatin structure and repeat expression during aging in male and female flies. Male D. miranda have about twice as much repetitive DNA compared to females, and live shorter than females. Heterochromatin is crucial for silencing of repetitive elements, yet old D. miranda flies lose H3K9me3 modifications in their pericentromere, with heterochromatin loss being more severe during aging in males than females. Satellite DNA becomes de-repressed more rapidly in old vs. young male flies relative to females. In contrast to what is observed in D. melanogaster, we find that transposable elements (TEs) are expressed at higher levels in male D. miranda throughout their life. We show that epigenetic silencing via heterochromatin formation is ineffective on the TE-rich neo-Y chromosome, presumably due to active transcription of a large number of neo-Y linked genes, resulting in up-regulation of Y-linked TEs already in young males. This is consistent with an interaction between the evolutionary age of the Y chromosome and the genomic effects of aging. Our data support growing evidence that "toxic Y chromosomes" can diminish male fitness and a reduction in heterochromatin can contribute to sex-specific aging.


Assuntos
Drosophila melanogaster/genética , Heterocromatina/genética , Sequências Repetitivas de Ácido Nucleico/genética , Cromossomo Y/genética , Animais , Evolução Biológica , Elementos de DNA Transponíveis/genética , Epigênese Genética , Feminino , Masculino , Cromossomos Sexuais/genética
14.
Nature ; 594(7862): 227-233, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33910227

RESUMO

The accurate and complete assembly of both haplotype sequences of a diploid organism is essential to understanding the role of variation in genome functions, phenotypes and diseases1. Here, using a trio-binning approach, we present a high-quality, diploid reference genome, with both haplotypes assembled independently at the chromosome level, for the common marmoset (Callithrix jacchus), an primate model system that is widely used in biomedical research2,3. The full spectrum of heterozygosity between the two haplotypes involves 1.36% of the genome-much higher than the 0.13% indicated by the standard estimation based on single-nucleotide heterozygosity alone. The de novo mutation rate is 0.43 × 10-8 per site per generation, and the paternal inherited genome acquired twice as many mutations as the maternal. Our diploid assembly enabled us to discover a recent expansion of the sex-differentiation region and unique evolutionary changes in the marmoset Y chromosome. In addition, we identified many genes with signatures of positive selection that might have contributed to the evolution of Callithrix biological features. Brain-related genes were highly conserved between marmosets and humans, although several genes experienced lineage-specific copy number variations or diversifying selection, with implications for the use of marmosets as a model system.


Assuntos
Callithrix/genética , Diploide , Evolução Molecular , Genoma/genética , Genômica/normas , Animais , Pesquisa Biomédica , Variações do Número de Cópias de DNA , Feminino , Mutação em Linhagem Germinativa/genética , Haplótipos/genética , Heterozigoto , Humanos , Mutação INDEL/genética , Masculino , Padrões de Referência , Seleção Genética , Diferenciação Sexual/genética , Cromossomo Y/genética
15.
Reprod Domest Anim ; 56(6): 928-935, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33829570

RESUMO

The differential proteins associated with plasma membrane of spermatozoa are less known, identification of which shall help overcome limitations of currently used methods of sperm sexing, considered as a high priority for livestock sector of many countries. This study has reported plasma membrane proteomics of unsorted spermatozoa and differential expression of plasma membrane-associated proteins between X- and Y-chromosome bearing spermatozoa of indicus cattle (Bos indicus). Isolation of plasma membrane fraction using percoll gradient, relatively a rapid method, from bovine spermatozoa has been reported to enrich isolation of plasma membrane proteins. Significant enrichment for plasma membrane-associated proteins was observed in plasma membrane fraction (p < .05) as compared to the total cell lysate using LC-MS/MS. Furthermore, these experiments were conducted in flow cytometry sorted, sexed-semen samples. Thirteen proteins were identified as differentially abundant between X- and Y-sorted spermatozoa. Among these, two proteins were downregulated in Y-sorted spermatozoa compared to the X-sorted spermatozoa (p < .05), while four and seven proteins could be noted in X- and Y-sorted spermatozoa, respectively. Proteins that are presumed to support sperm capacitation and sperm migration velocity were found to be abundant in Y-sorted spermatozoa while those associated with structural molecule activity were identified as abundant in X-sorted spermatozoa in the present study. Our study provides better insight into the plasma membrane proteomics of spermatozoa of indicus cattle and furnishes data that might aid in design and development of alternate and open technology for sex-sorting of semen.


Assuntos
Membrana Celular/química , Proteoma/análise , Espermatozoides/citologia , Animais , Bovinos , Masculino , Pré-Seleção do Sexo/veterinária , Espermatozoides/química , Cromossomo X/metabolismo , Cromossomo Y/metabolismo
16.
Cells ; 10(3)2021 03 16.
Artigo em Inglês | MEDLINE | ID: mdl-33809726

RESUMO

Translocation between sex-chromosomes and autosomes generates multiple sex-chromosome systems. It happens unexpectedly, and therefore, the evolutionary meaning is not clear. The current study shows a multiple sex chromosome system comprising three different chromosome pairs in a Taiwanese brown frog (Odorrana swinhoana). The male-specific three translocations created a system of six sex-chromosomes, ♂X1Y1X2Y2X3Y3-♀X1X1X2X2X3X3. It is unique in that the translocations occurred among three out of the six members of potential sex-determining chromosomes, which are known to be involved in sex-chromosome turnover in frogs, and the two out of three include orthologs of the sex-determining genes in mammals, birds and fishes. This rare case suggests sex-specific, nonrandom translocations and thus provides a new viewpoint for the evolutionary meaning of the multiple sex chromosome system.


Assuntos
Evolução Molecular , Meiose , Ranidae/genética , Processos de Determinação Sexual , Translocação Genética , Cromossomo X , Cromossomo Y , Animais , Feminino , Masculino
17.
Rev. int. androl. (Internet) ; 19(1): 41-48, ene.-mar. 2021. tab, graf
Artigo em Inglês | IBECS | ID: ibc-201669

RESUMO

INTRODUCTION: In our study, we sought answers to many questions about male infertility from a different perspective. The first step in male infertility is anamnesis, physical examination and sperm count. The European Academy of Andrology recommends examination of genetic causes in individuals with fewer than 5million/ml semen counts. The American Urological Association and American Society for Reproductive Medicine have guidelines recommending performing karyotype and AZF subgroup deletion testing in azoospermia and fewer than 5 million sperm total count. Klinefelter syndrome and Y chromosome microdeletions are still very important in male infertility. Based on patients with Klinefelter syndrome or Y microdeletion, we sought answers to many questions in male infertility. MATERIALS AND METHODS: In the presented study 327 male patients with having fewer than 15millionsperm/ml detected in at least two consecutive sperm analysis were examined. Patients were divided into sub-groups according to the presence of semen count, chromosomal anomaly and Y microdeletion. In addition, FSH, LH and testosterone levels were analyzed. RESULTS: Numerical chromosomal anomalies were observed in 34 (10.4%) of 327 patients, and all of these anomalies were found as 47, XXY. Individuals with no AZF microdeletion constituted 95.1% (n=311) of the study group. The overall frequency of AZF microdeletions was 4.9% (16/327). No AZF microdeletions were detected for the patients who have sperm counts above 2million/ml. FSH, LH and testosterone levels were found significantly different between the groups. DISCUSSION: The results of our study provide another layer of evidence to demonstrate the controversial threshold value of the EAA. In light of our data and current literature, we recommend to set the threshold value at 2million/ml for semen analysis. Further studies conducted in different ethnic groups and larger patient groups would contribute to clarify what exact value should be used to apply genetic tests


INTRODUCCIÓN: En nuestro estudio, buscamos respuestas a muchas preguntas relativas a la infertilidad masculina, desde una perspectiva diferente. El primer paso en la infertilidad masculina es la anamnesis, el examen físico y el recuento seminal. La Academia Europea de Andrología recomienda el examen de las causas genéticas en individuos con menos de 5millones/ml de recuento seminal. La Asociación Americana de Urología y la Sociedad Americana de Medicina Reproductiva cuentan con directrices que recomiendan la realización de pruebas de cariotipos y deleción del subgrupo AZF en los casos de azoospermia y un recuento seminal total inferior a 5millones/ml. El síndrome de Klinefelter y las micro-deleciones del cromosoma Y siguen siendo muy importantes en la infertilidad masculina. Basándonos en los pacientes con síndrome de Klinefelter o micro-deleción del cromosoma Y, buscamos respuestas a muchas cuestiones de la infertilidad masculina. MATERIALES Y MÉTODOS: En el presente estudio examinamos 327 varones con valores inferiores a 15 millones de esperma/ml detectados en al menos 2 análisis seminales consecutivos. Dividimos a los pacientes en subgrupos con arreglo a la presencia de recuento seminal, anomalía cromosómica y micro-deleción del cromosoma Y. Además, analizamos los niveles de FSH, LH y testosterona. RESULTADOS: Se observaron anomalías cromosómicas numéricas en 34 (10,4%) de los 327 pacientes, encontrándose dichas anomalías como 47, XXY. Los individuos sin micro-deleción AZF constituyeron el 95,1% (n=311) del grupo de estudio. La frecuencia general de las micro-deleciones AZF fue del 4,9% (16/327). No se detectaron micro-deleciones AZF para los pacientes con recuentos seminales superiores a 2millones/ml. Los niveles de FSH, LH y testosterona fueron significativamente diferentes entre los grupos. DISCUSIÓN: Los resultados de nuestro estudio aportan otra evidencia para demostrar el controvertido valor umbral de EAA. A la luz de nuestros datos y de la literatura actual, recomendamos establecer el valor umbral en 2millones/ml para el análisis seminal. Los futuros estudios a realizar en diferentes grupos étnicos y muestras de mayor tamaño de pacientes contribuirían a clarificar qué valor exacto debería utilizarse para solicitar pruebas genéticas


Assuntos
Humanos , Masculino , Adulto , Azoospermia/diagnóstico , Azoospermia/genética , Oligospermia/genética , Infertilidade Masculina/genética , Aberrações Cromossômicas , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Estudos de Coortes , Azoospermia/fisiopatologia , Oligospermia/fisiopatologia , Infertilidade Masculina/fisiopatologia , Cromossomo Y/genética , Síndrome de Klinefelter/fisiopatologia , Estudos Retrospectivos
18.
FASEB J ; 35(4): e21452, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33749946

RESUMO

Despite the importance of germ cell (GC) differentiation for sexual reproduction, the gene networks underlying their fate remain unclear. Here, we comprehensively characterize the gene expression dynamics during sex determination based on single-cell RNA sequencing of 14 914 XX and XY mouse GCs between embryonic days (E) 9.0 and 16.5. We found that XX and XY GCs diverge transcriptionally as early as E11.5 with upregulation of genes downstream of the bone morphogenic protein (BMP) and nodal/Activin pathways in XY and XX GCs, respectively. We also identified a sex-specific upregulation of genes associated with negative regulation of mRNA processing and an increase in intron retention consistent with a reduction in mRNA splicing in XY testicular GCs by E13.5. Using computational gene regulation network inference analysis, we identified sex-specific, sequential waves of putative key regulator genes during GC differentiation and revealed that the meiotic genes are regulated by positive and negative master modules acting in an antagonistic fashion. Finally, we found that rare adrenal GCs enter meiosis similarly to ovarian GCs but display altered expression of master genes controlling the female and male genetic programs, indicating that the somatic environment is important for GC function. Our data are available on a web platform and provide a molecular roadmap of GC sex determination at single-cell resolution, which will serve as a valuable resource for future studies of gonad development, function, and disease.


Assuntos
Perfilação da Expressão Gênica/métodos , Processos de Determinação Sexual , Animais , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Células Germinativas , Masculino , Camundongos , Camundongos Transgênicos , Análise de Célula Única , Fatores de Tempo , Cromossomo X , Cromossomo Y
19.
Fa Yi Xue Za Zhi ; 37(1): 91-98, 2021 Feb.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-33780192

RESUMO

Abstract: The paternal inheritance characteristics of Y chromosome have been widely used in the forensic genetics field to detect the genetic markers in the non-recombining block, and used in the studies such as, genetic relationship identification, mixed stain detection, pedigree screen and ethnicity determination. At present, capillary electrophoresis is still the most common detection technology. The commercial detection kits and data analysis and processing system based on this technology are very mature. However, the disadvantages of traditional detection technology have gradually appeared with the rapid growth of bio-information amount, which promotes the renewal of forensic DNA typing technology. In recent years, next generation sequencing (NGS) technology has developed rapidly. This technology has been applied to various fields including forensic genetics and has provided new techniques for the detection of Y chromosome genetic markers. This article describes the current situation and application prospects of the NGS technology in forensic Y chromosome genetic markers detection in order to provide new ideas for future judicial practice.


Assuntos
Genética Forense , Sequenciamento de Nucleotídeos em Larga Escala , Cromossomos Humanos Y/genética , Impressões Digitais de DNA , Marcadores Genéticos , Humanos , Repetições de Microssatélites , Tecnologia , Cromossomo Y
20.
Cytogenet Genome Res ; 161(1-2): 23-31, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33735859

RESUMO

The sex chromosomes of most anuran amphibians are characterized by homomorphy in both sexes, and evolution to heteromorphy rarely occurs at the species or geographic population level. Here, we report sex chromosome heteromorphy in geographic populations of the Japanese Tago's brown frog complex (2n = 26), comprising Rana sakuraii and R. tagoi. The sex chromosomes of R. sakuraii from the populations in western Japan were homomorphic in both sexes, whereas chromosome 7 from the populations in eastern Japan were heteromorphic in males. Chromosome 7 of R. tagoi, which is distributed close to R. sakuraii in eastern Japan, was highly similar in morphology to the Y chromosome of R. sakuraii. Based on this and on mitochondrial gene sequence analysis, we hypothesize that in the R. sakuraii populations from eastern Japan the XY heteromorphic sex chromosome system was established by the introduction of chromosome 7 from R. tagoi via interspecies hybridization. In contrast, chromosome 13 of R. tagoi from the 2 large islands in western Japan, Shikoku and Kyushu, showed a heteromorphic pattern of constitutive heterochromatin distribution in males, while this pattern was homomorphic in females. Our study reveals that sex chromosome heteromorphy evolved independently at the geographic lineage level in this species complex.


Assuntos
Mitocôndrias/genética , Ranidae/genética , Cromossomos Sexuais , Animais , Bandeamento Cromossômico , DNA Mitocondrial/genética , Feminino , Geografia , Japão , Cariotipagem , Funções Verossimilhança , Filogenia , RNA Ribossômico 16S/genética , Especificidade da Espécie , Cromossomo Y
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