Characterization of Genes Encoding Translation Initiation Factor eIF-2  in Mouse and Human: Sex Chromosome Localization, Escape from X-Inactivation and Evolution

Ehrmann, Ingrid; Ellis, Pamela; Mazeyrat, Sophie; Duthie, Sarah M.; Brockdorff, Neil; Mattei, Marie-Genevı̀eve; Gavin, Marc A.; Affara, Nabeel A.; Brown, Graeme M.; Simpson, Elizabeth; Mitchell, Michael J.; Scott, Diane

doi:10.1093/hmg/7.11.1725

Cited by 88 publications

(62 citation statements)

References 48 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…DOI: 10.1371/journal.pgen.0020043.g006 many orders but absent in mouse and pig [2]. Conversely, Eif2s3y and Ube1y are Y-borne in mouse, cat, pig, and other eutherians but absent in human and some related primate lineages [2,6,12]. Our analysis of the feline Y chromosome revealed novel X-degenerate genes, including CUL4BY, whose counterpart, CUL4BX, is positioned in X chromosome Stratum 1 [26,27], and likely originated early in mammalian evolution and subsequently was lost in the human and probably rodent lineages.…”

Section: Discussionmentioning

confidence: 99%

“…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%

See 2 more Smart Citations

Novel Gene Acquisition on Carnivore Y Chromosomes

Murphy¹,

Wilkerson²,

Raudsepp³

et al. 2005

PLoS Genet

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%

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

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Novel Gene Acquisition on Carnivore Y Chromosomes

Murphy¹,

Wilkerson²,

Raudsepp³

et al. 2005

PLoS Genet

View full text Add to dashboard Cite

show abstract

“…For example, mouse Smcy and Uty and mouse and human Eif2s3x are known to escape X-inactivation. 23,24 However, previous data indicate that Mecp2 does not escape X-inactivation in both humans 25 and mice. 26 Therefore, escape from X-inactivation is not likely responsible for sex differences in rat Mecp2 expression.…”

confidence: 92%

Sex Difference in Mecp2 Expression During a Critical Period of Rat Brain Development

Kurian

Forbes-Lorman²,

Auger³

2007

Epigenetics

View full text Add to dashboard Cite

Pervasive developmental disorder is a classification covering five related conditions including the neurodevelopmental disorder Rett syndrome (RTT) and autism. Of these five conditions, only RTT has a known genetic cause with mutations in Methyl-CpG-binding protein 2 (MeCP2), a global repressor of gene expression, responsible for the majority of RTT cases. However, recent evidence indicates that reduced MeCP2 expression or activity is also found in autism and other disorders with overlapping phenotypes. Considering the sex difference in autism diagnosis, with males diagnosed four times more often than females, we questioned if a sex difference existed in the expression of MeCP2, in particular within the amygdala, a region that develops atypically in autism. We found that male rats express significantly less mecp2 mRNA and protein than females within the amygdala, as well as the ventromedial hypothalamus (VMH), but not within the preoptic area (POA) on post-natal day 1 (PN1). At PN10 these differences were gone; however, on this day males had more mecp2 mRNA than females within the POA. The transient sex difference of mecp2 expression during the steroid-sensitive period of brain development suggests that mecp2 may participate in normal sexual differentiation of the rat brain. Considering the strong link between MeCP2 and neurodevelopmental disorders, the lower levels of mecp2 expression in males may also underlie a biological risk for mecp2-related neural disorders.

show abstract

“…Eif2s2 is a TGCT modifier in mice (Heaney et al, 2009), but remains to be confirmed in humans. Eif2s3 is located on both Y (Eif2s3y) and X (Eif2s3x) chromosomes in mice (in humans, no Y homologues have been found) (Ehrmann et al, 1998). Given the role of sex chromosomes discussed above, Eif2s3 should be considered as a candidate for TGCT susceptibility.…”

Section: Rna Biology Epigenetic Regulation and Tgctsmentioning

confidence: 99%