期刊
HUMAN MOLECULAR GENETICS
卷 9, 期 2, 页码 311-319出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/9.2.311
关键词
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Approximately 12 X-Y homologous gene pairs have been identified in the non-recombining portions of human sex chromosomes. These X-Y gene pairs fall into two categories. In the first category, both X and Y homologs are ubiquitously expressed. In the second category, the X homolog is ubiquitously expressed, whereas the Y homolog is expressed exclusively in the testis, Here we describe a family of human X-Y genes that cannot be assigned to either category, Designated VCX/Y (Variable Charge X/Y; VCY previously known as BPY1), this gene family has multiple members on both X and Y, and all appear to be expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30 nucleotide unit is tandemly repeated in X-linked members but is present only once in Y-linked members. These atypical features suggest that the VCX/Y family has evolved in a manner previously unrecognized for mammalian X-Y genes, We also found that a copy of VCX is present in CRI-S232, a previously described genomic fragment derived from the X chromosome, Studies have shown that aberrant recombination between arrays of CRI-S232-homologous repeats flanking the steroid sulfatase (STS) gene results in STS deletion, which is manifested clinically as X-linked ichthyosis, The revelation that CRI-S232 contains VCX offers a more precise description of the genetic etiology of X-linked ichthyosis: it results from aberrant recombination between VCX gene arrays that flank the STS locus.
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