Prepubertal human spermatogonia and mouse gonocytes share conserved gene expression of germline stem cell regulatory molecules

Wu, Xin; Schmidt, Jonathan A.; Avarbock, Mary R.; Tobias, John W.; Carlson, Claire A.; Kolon, Thomas F.; Ginsberg, Jill P.; Brinster, Ralph L.

doi:10.1073/pnas.0912432106

Cited by 177 publications

(158 citation statements)

References 42 publications

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“…Although the above results suggest that amplification of copy number and retrotranspositions are potential evolutionary strategies to cope with MSCI and postmeiotic silencing, we also identified (Chalmel et al 2007;Wu et al 2009). (B) Expression heatmap of mouse X-linked multicopy genes.…”

Section: Postmeiotic Silencing Impacts Sex Chromosome Evolutionmentioning

confidence: 61%

“…Previously, to determine the profile of MSCI in mice, we examined gene expression changes during the mitosis-to-meiosis transition by comparing microarray data between spermatogonia and pachytene spermatocytes (Namekawa et al 2006). To determine the profiles of human sex chromosome inactivation, we analyzed previously published microarray data of human spermatogonia (SG), pachytene spermatocytes (PS), and round spermatids (RS) (see Methods) (Chalmel et al 2007;Wu et al 2009). …”

Section: Initiation Of Msci Is Mechanistically Conserved In Humans Anmentioning

confidence: 99%

“…E-TABM-130) (Chalmel et al 2007), and the National Center for Biotechnology Information Gene Expression Omnibus (GEO) database (http:// www.ncbi.nlm.nih.gov/geo; accession no. GSE18914) (Wu et al 2009). For microarray analysis in mouse spermatogenesis, we analyzed a published data set of the Affymetrix MG-430 2.0 Array deposited in the GEO database (http://www.ncbi.nlm.nih.gov/ geo/; accession no.…”

Section: Microarray Analysismentioning

confidence: 99%

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Human postmeiotic sex chromatin and its impact on sex chromosome evolution

Sin¹,

Ichijima²,

Koh³

et al. 2012

Genome Res.

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Sex chromosome inactivation is essential epigenetic programming in male germ cells. However, it remains largely unclear how epigenetic silencing of sex chromosomes impacts the evolution of the mammalian genome. Here we demonstrate that male sex chromosome inactivation is highly conserved between humans and mice and has an impact on the genetic evolution of human sex chromosomes. We show that, in humans, sex chromosome inactivation established during meiosis is maintained into spermatids with the silent compartment postmeiotic sex chromatin (PMSC). Human PMSC is illuminated with epigenetic modifications such as trimethylated lysine 9 of histone H3 and heterochromatin proteins CBX1 and CBX3, which implicate a conserved mechanism underlying the maintenance of sex chromosome inactivation in mammals. Furthermore, our analyses suggest that male sex chromosome inactivation has impacted multiple aspects of the evolutionary history of mammalian sex chromosomes: amplification of copy number, retrotranspositions, acquisition of de novo genes, and acquisition of different expression profiles. Most strikingly, profiles of escape genes from postmeiotic silencing diverge significantly between humans and mice. Escape genes exhibit higher rates of amino acid changes compared with non-escape genes, suggesting that they are beneficial for reproductive fitness and may allow mammals to cope with conserved postmeiotic silencing during the evolutionary past. Taken together, we propose that the epigenetic silencing mechanism impacts the genetic evolution of sex chromosomes and contributed to speciation and reproductive diversity in mammals.

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Section: Postmeiotic Silencing Impacts Sex Chromosome Evolutionmentioning

confidence: 61%

Section: Initiation Of Msci Is Mechanistically Conserved In Humans Anmentioning

confidence: 99%

Section: Microarray Analysismentioning

confidence: 99%

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Human postmeiotic sex chromatin and its impact on sex chromosome evolution

Sin¹,

Ichijima²,

Koh³

et al. 2012

Genome Res.

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“…It has been suggested (McVean et al 2004) that this may be a consequence of selection against mutagenic effects of recombination, but another possibility is that it is a consequence of an interaction between transcription and recombination in meiotic cells. To help distinguish these possibilities, we calculated the pairwise correlation between gene expression for a wide range of tissues (Sato et al 2003;Su et al 2004;Barberi et al 2005;Ge et al 2005;Perez-Iratxeta et al 2005;Skottman et al 2005;Kocabas et al 2006;Korkola et al 2006;Looijenga et al 2006;Chalmel et al 2007;Houmard et al 2009;Wu et al 2009) and fine-scale crossover rate as estimated from linkage disequilibrium (LD) data (Myers et al 2005;The International HapMap Consortium 2007). Gene expression in most tissues is negatively correlated with crossover rate (Supplemental Figs.…”

Section: Resultsmentioning

confidence: 99%

Genomic signatures of germline gene expression

McVicker¹,

Green²

2010

Genome Res.

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Transcribed regions in the human genome differ from adjacent intergenic regions in transposable element density, crossover rates, and asymmetric substitution and sequence composition patterns. We tested whether these differences reflect selection or are instead a byproduct of germline transcription, using publicly available gene expression data from a variety of germline and somatic tissues. Crossover rate shows a strong negative correlation with gene expression in meiotic tissues, suggesting that crossover is inhibited by transcription. Strand-biased composition (G+T content) and A ! G versus T ! C substitution asymmetry are both positively correlated with germline gene expression. We find no evidence for a strand bias in allele frequency data, implying that the substitution asymmetry reflects a mutation rather than a fixation bias. The density of transposable elements is positively correlated with germline expression, suggesting that such elements preferentially insert into regions that are actively transcribed. For each of the features examined, our analyses favor a nonselective explanation for the observed trends and point to the role of germline gene expression in shaping the mammalian genome.

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“…This is in contrast to testes from newborn rhesus and cynomolgus monkeys, which contain type A spermatogonia as the predominant germ cell type (Simorangkir et al, 2005). Whereas rodent testes exhibit mostly gonocytes at the time of birth, these undifferentiated germ cells then quickly differentiate into type A spermatogonia or enter apoptosis (de Rooij and Grootegoed, 1998;Forand et al, 2009;Wu et al, 2009).…”

Section: Animal Models To Study Early Germ Cell Development In the Humanmentioning

confidence: 80%

Male germline stem cells in non-human primates

Sharma¹,

Portela

Langenstroth-Röwer³

et al. 2017

Primate Biol.

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Abstract.Over the past few decades, several studies have attempted to decipher the biology of mammalian germline stem cells (GSCs). These studies provide evidence that regulatory mechanisms for germ cell specification and migration are evolutionarily conserved across species. The characteristics and functions of primate GSCs are highly distinct from rodent species; therefore the findings from rodent models cannot be extrapolated to primates. Due to limited availability of human embryonic and testicular samples for research purposes, two non-human primate models (marmoset and macaque monkeys) are extensively employed to understand human germline development and differentiation. This review provides a broader introduction to the in vivo and in vitro germline stem cell terminology from primordial to differentiating germ cells. Primordial germ cells (PGCs) are the most immature germ cells colonizing the gonad prior to sex differentiation into testes or ovaries. PGC specification and migratory patterns among different primate species are compared in the review. It also reports the distinctions and similarities in expression patterns of pluripotency markers (OCT4A, NANOG, SALL4 and LIN28) during embryonic developmental stages, among marmosets, macaques and humans. This review presents a comparative summary with immunohistochemical and molecular evidence of germ cell marker expression patterns during postnatal developmental stages, among humans and non-human primates. Furthermore, it reports findings from the recent literature investigating the plasticity behavior of germ cells and stem cells in other organs of humans and monkeys. The use of non-human primate models would enable bridging the knowledge gap in primate GSC research and understanding the mechanisms involved in germline development. Reported similarities in regulatory mechanisms and germ cell expression profile in primates demonstrate the preclinical significance of monkey models for development of human fertility preservation strategies.

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Prepubertal human spermatogonia and mouse gonocytes share conserved gene expression of germline stem cell regulatory molecules

Cited by 177 publications

References 42 publications

Human postmeiotic sex chromatin and its impact on sex chromosome evolution

Human postmeiotic sex chromatin and its impact on sex chromosome evolution

Genomic signatures of germline gene expression

Male germline stem cells in non-human primates

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