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Review
. 2015 Jun;149(6):R265-77.
doi: 10.1530/REP-14-0613.

Functional significance of the sex chromosomes during spermatogenesis

Yueh-Chiang Hu  1 , Satoshi H Namekawa  2
Affiliations
Review

Functional significance of the sex chromosomes during spermatogenesis

Yueh-Chiang Hu et al. Reproduction. 2015 Jun.

Abstract

Mammalian sex chromosomes arose from an ordinary pair of autosomes. Over hundreds of millions of years, they have evolved into highly divergent X and Y chromosomes and have become increasingly specialized for male reproduction. Both sex chromosomes have acquired and amplified testis-specific genes, suggestive of roles in spermatogenesis. To understand how the sex chromosome genes participate in the regulation of spermatogenesis, we review genes, including single-copy, multi-copy, and ampliconic genes, whose spermatogenic functions have been demonstrated in mouse genetic studies. Sex chromosomes are subject to chromosome-wide transcriptional silencing in meiotic and postmeiotic stages of spermatogenesis. We also discuss particular sex-linked genes that escape postmeiotic silencing and their evolutionary implications. The unique gene contents and genomic structures of the sex chromosomes reflect their strategies to express genes at various stages of spermatogenesis and reveal the driving forces that shape their evolution.Free Chinese abstract: A Chinese translation of this abstract is freely available at http://www.reproduction-online.org/content/149/6/R265/suppl/DC1.Free Japanese abstract: A Japanese translation of this abstract is freely available at http://www.reproduction-online.org/content/149/6/R265/suppl/DC2.

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Conflict of interest statement

Declaration of Interests

We declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

Figures

Figure 1
Figure 1. Schematic of spermatogenesis and events on the sex chromosomes
Due to sex chromosome inactivation, sex chromosomes function in two critical phases before meiosis in mitotically proliferating spermatogonia and after meiosis in haploid spermatids. Blue arrows: two stages of sex chromosome inactivation, Red arrows: Groups of genes expressed from the sex chromosomes.
Figure 2
Figure 2. Model of conflict between two evolutionary driving forces on the X chromosome
Microarray heatmap adapted from Namekawa et al. 2006. AS: type A spermatogonia, BS: type B spermatogonia, PS: pachytene spermatocytes, RS: round spermatids.
See this image and copyright information in PMC

References

    1. Adelman CA, Petrini JH. ZIP4H (TEX11) deficiency in the mouse impairs meiotic double strand break repair and the regulation of crossing over. PLoS Genet. 2008;4:e1000042. - PMC - PubMed
    1. Alpatov R, Lesch BJ, Nakamoto-Kinoshita M, Blanco A, Chen S, Stutzer A, Armache KJ, Simon MD, Xu C, Ali M, Murn J, Prisic S, Kutateladze TG, Vakoc CR, Min J, Kingston RE, Fischle W, Warren ST, Page DC, Shi Y. A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response. Cell. 2014;157:869–881. - PMC - PubMed
    1. Anguera MC, Ma W, Clift D, Namekawa S, Kelleher RJ, 3rd, Lee JT. Tsx produces a long noncoding RNA and has general functions in the germline, stem cells, and brain. PLoS Genet. 2011;7:e1002248. - PMC - PubMed
    1. Bailey JA, Carrel L, Chakravarti A, Eichler EE. Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: the Lyon repeat hypothesis. Proc Natl Acad Sci U S A. 2000;97:6634–6639. - PMC - PubMed
    1. Bellott DW, Hughes JF, Skaletsky H, Brown LG, Pyntikova T, Cho TJ, Koutseva N, Zaghlul S, Graves T, Rock S, Kremitzki C, Fulton RS, Dugan S, Ding Y, Morton D, Khan Z, Lewis L, Buhay C, Wang Q, Watt J, Holder M, Lee S, Nazareth L, Alfoldi J, Rozen S, Muzny DM, Warren WC, Gibbs RA, Wilson RK, Page DC. Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature. 2014;508:494–499. - PMC - PubMed