The Mouse Y Chromosome Interval Necessary for Spermatogonial Proliferation is Gene Dense with Syntenic Homology to the Human AZFa Region

Mazeyrat, Sophie; Saut, Noémie; Sargent, Carole A.; Grimmond, Sean M.; Longepied, Guy; Ehrmann, Ingrid; Ellis, Pamela; Greenfield, Andy; Affara, Nabeel A.; Mitchell, Michael J.

doi:10.1093/hmg/7.11.1713

Cited by 90 publications

(63 citation statements)

References 58 publications

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“…Comparative mapping studies have shown that most eutherian orders share a core set of conserved, X-degenerate, Y-borne genes [6,7,[10][11][12][13][14][15][16]. Previous studies mapped eight of these to the feline Y chromosome [13], but efforts to isolate additional feline Y-borne loci were largely unsuccessful, primarily due to mammalian conserved X-Y primers preferentially amplifying only X-specific homologs in male cat DNA.…”

Section: Isolation and Mapping Of New Feline X-degenerate Genesmentioning

confidence: 99%

“…To date, however, all published comparative studies have focused on which human (or mouse) Y chromosome genes are present or not in other mammalian species [6][7][8][9][10][11][12][13][14][15]. While these studies, particularly those in marsupials and monotremes [16][17][18][19][20], have been extremely useful in highlighting broader evolutionary patterns, there still exists a fundamental gap in our understanding of the novel gene content and processes by which Y chromosome genes have been acquired or lost in other major lineages of mammals.…”

Section: Introductionmentioning

confidence: 99%

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Novel Gene Acquisition on Carnivore Y Chromosomes

Murphy¹,

Wilkerson²,

Raudsepp³

et al. 2005

PLoS Genet

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Despite its importance in harboring genes critical for spermatogenesis and male-specific functions, the Y chromosome has been largely excluded as a priority in recent mammalian genome sequencing projects. Only the human and chimpanzee Y chromosomes have been well characterized at the sequence level. This is primarily due to the presumed low overall gene content and highly repetitive nature of the Y chromosome and the ensuing difficulties using a shotgun sequence approach for assembly. Here we used direct cDNA selection to isolate and evaluate the extent of novel Y chromosome gene acquisition in the genome of the domestic cat, a species from a different mammalian superorder than human, chimpanzee, and mouse (currently being sequenced). We discovered four novel Y chromosome genes that do not have functional copies in the finished human male-specific region of the Y or on other mammalian Y chromosomes explored thus far. Two genes are derived from putative autosomal progenitors, and the other two have X chromosome homologs from different evolutionary strata. All four genes were shown to be multicopy and expressed predominantly or exclusively in testes, suggesting that their duplication and specialization for testis function were selected for because they enhance spermatogenesis. Two of these genes have testis-expressed, Y-borne copies in the dog genome as well. The absence of the four newly described genes on other characterized mammalian Y chromosomes demonstrates the gene novelty on this chromosome between mammalian orders, suggesting it harbors many lineage-specific genes that may go undetected by traditional comparative genomic approaches. Specific plans to identify the male-specific genes encoded in the Y chromosome of mammals should be a priority.

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Section: Isolation and Mapping Of New Feline X-degenerate Genesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Novel Gene Acquisition on Carnivore Y Chromosomes

Murphy¹,

Wilkerson²,

Raudsepp³

et al. 2005

PLoS Genet

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“…DBY has an X-homologue, DBX, located on Xp11, which escapes X-inactivation and has 91.7% sequence identity at the protein level in humans. Slightly different from the human DBY gene, mouse Dby has a structural homolog called Ddx3x on the X chromosome and an autosomal homolog, D1Pas1, on mouse chromosome 1 [8,9]. Furthermore, the spermatogenesis-specific function of Dby is not obvious in mice when compared with humans [10].…”

mentioning

confidence: 94%

The role of Dby mRNA in early development of male mouse zygotes

Yao¹,

Xu²,

Gong³

et al. 2010

Asian J Androl

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Ejaculated mammalian spermatozoa contain a complex yet specific population of mRNA. However, the possible roles that mRNA has in early zygotic and embryonic development remain unclear. We found that Dby mRNA is selectively retained in capacitated mouse spermatozoa, and is transferred into the oocyte during fertilization by reverse transcription-polymerase chain reaction even though no DBY protein expression is detected. The cellular location of Dby mRNA is seen in the post-acrosome region, and it comprises nearly half of the mouse spermatozoa in in situ hybridization. In contrast, transcripts of the control gene, Smcy, are not detected in capacitated mouse spermatozoa, although the H-Y antigen encoded by Smcy is expressed on the surface of the spermatozoa. In our microinjection experiment, the zygotic development rate of the as-Dby male pronucleus injection group was significantly lower than that of the as-Smcy male pronucleus injection group (35.9% vs. 95%, P = 0.001) and the as-Dby female pronucleus injection group (35.9% vs. 93.8%, P = 0.001). The rate of male-developed zygotes was also lower than that of the as-Smcy male pronucleus injection group (17.4% vs. 57.9%, P = 0.002) and the as-Dby female pronucleus injection group (17.4% vs. 54.1%, P = 0.002). Thus, we conclude that Dby mRNA is selectively retained in capacitated mouse spermatozoa, and it has an important role in the early zygotic development of male mouse zygotes. This might imply that spermatozoa mRNA is involved in early zygotic and embryonic stages of reproduction.

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“…In contrast to humans mouse Ddx3y protein is found to be dispensable for spermatogenesis (24), but Ddx3y mRNA is retained in mouse spermatozoa and appears to contribute to early zygotic development (25). The mouse Ddx3y gene also has an X-chromosomal homologue Ddx3x (26). It is supposed that molecular functions of Ddx3y protein may be carried out by Ddx3x representing the same expression pattern in mouse testes (23).…”

Section: Discussionmentioning

confidence: 99%