Mammalian Genome 10, 962 (1999). Incorporating Mouse Genome © Springer-Verlag New York Inc. 1999 1 2 Colin E. Bishop, * Michael J. Mitchell ** Departments of Obstetrics & Gynecology and Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA INSERM U491, Faculte de medecine, 27 Bd Jean Moulin, 13385 Marseille Cedex 05, France Submitted: 1 December 1998 Introduction The mouse Y Chromosome (Y Chr) map has developed consid- there was an increased number of abnormal spermatozoa in their erably since the last report. The generally accepted size of 60 Mb ejaculate, compared to mice carrying a non-deleted Y Chr. This for the Y Chr has been called into question, as the C57BL/6J Y Chr maps a spermiogenesis factor to this deletion interval. It was fur- has been measured to contain 94.7 Mb of DNA (46799). Fifteen ther shown that this deletion removes most copies of Rbm from the new anonymous Y-specific markers have been derived but have mouse Y Chr and that this translates into a drastic reduction in not been sublocalised on the chromosome (46799). Three new Rbm transcript levels (46791). Rbm is therefore a strong candidate genes have also been placed on the map. The genetic map of the for a spermiogenesis factor. Uty was previously shown to encode Y Chr suggests that all its critical functions are involved in sper- the H-YDb epitope of the H-Y antigen. It has now been shown that matogenesis. These are further divided into spermiogenesis func- a distinct H-YDb epitope is encoded by Smcy (51117). tions (Smy) on the long arm and pericentric region, and mitotic germ cell proliferation functions (Spy) located on the minute short Comparative mapping arm. A rich transcription map has been developed in the Sxrb deletion interval which is known to contain Spy. The position and Most of the genes mapped to the mouse Y Chr have homologues relative order of genes, anonymous markers and chromosomal on the human Y Chr, and this is true for the newly isolated genes. breakpoints are presented on the Chromosome Committee map. As Only the gene Eif2gy cannot be detected on the human Y Chr, the Y Chr does not recombine along most of its length, the cM although there is evidence for a Y-borne homologue in the pros- values were applied arbitrarily to reproduce the order derived by imians (50156). It is therefore likely that, as in the case of Ube1y, physical mapping. its homologue has been lost from the Y Chr during the evolution of the primate lineage. The homologue of Tspy-ps is TSPY which is present on the short arm of the human Y Chr in 40–60 copies. The transcription map There are also TSPY genes on the cattle and sheep Y Chr. These TSPY genes, like rat Tspy, produce functional transcripts, showing Three new genes have been isolated (Dby, Dffry and Eif2gy) that TSPY has been conserved on the Y Chr since the diveregence (50156, 45388, 50115) together with a transcribed decayed gene of eutherian orders more than 80 million years ago. The presence (Tspy-ps) (46364) and three transcribed pseudogenes of the auto- of a decayed Tspy gene on the mouse Y Chr shows that even genes somal Arha1 gene (Arhay-ps1-3) (47658). The Dby, Dffry, Eif2gy, that have been conserved can become non-functional on the Y Chr. Tspy-ps and Arhay-ps2 have been localized together with Uty, Comparison between the human and mouse transcription maps Smcy, Ube1y and Zfy1 on to a single BAC contig of approxi- show that the organisation of genes is very different between the mately 700 kb within the Sxrb deletion interval (50156). Thus, the two chromosomes: all the mouse genes are located in the pericen- interval required for germ cell proliferation on the Y Chr is gene tric region while the human genes are spread out over 30 Mb. The dense. All the functional genes identified in this interval have a exceptions are the genes DFFRY, DBY and UTY, which are close homologue on the X Chr. The Tspy-ps appears to be a closely arrayed and in the same order in both human and mouse. decayed gene as a closely related functional homologue has been The relative orientation of DFFRY and DBY is the same in both found on the rat Y Chr and no other closely related genes can be species but the orientation of human UTY remains to be deter- detected in either species (46364). Outside the Sxrb deletion in- mined. Thus DFFRY-DBY-UTY may represent a unique block of terval, there has been further characterization of the effects of the syntenic homology between the human and mouse Y Chr. pericentric Yd1 deletion. This deletion causes sex-reversal by tran- scriptionally silencing Sry (Tdy). The introduction of an Sry trans- gene allowed the Yd1 deleted mice to develop as fertile males but Nomenclature It should be noted that the gene symbols Dby, Rbm2, Dffry and * Committee Chair Eif2gy are not official nomenclature. An effort is being made to ** Co-Chair co-ordinate the human and mouse nomenclature, and this issue will Correspondence to: C.E. Bishop be resolved at the Nomenclature Workshop at the end of April.
Mammalian Genome – Springer Journals
Published: Oct 1, 1999
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