Journal Article

A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins

Bruce T. Lahn and David C. Page

in Human Molecular Genetics

Volume 9, issue 2, pages 311-319
Published in print January 2000 | ISSN: 0964-6906
Published online January 2000 | e-ISSN: 1460-2083 | DOI:
A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins

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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. Designa

ted 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.

Journal Article.  5672 words.  Illustrated.

Subjects: Genetics and Genomics

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