Nature Genetics
6, 394 - 400 (1994)
doi:10.1038/ng0494-394
Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome XpNathan A. Ellis1, Tian-Zhang Ye1, Susan Patton1, James German1, Peter N. Goodfellow2
& Polly Weller2
1Laboratory of Human Genetics, New York Blood Center, 310 East 67th Street, New York, New York 10021, USA
2Department of Genetics, University of Cambridge, Downing Street, Cambridge CB2 3EH, UK Correspondence should be addressed to N.A.E. The pseudoautosomal boundaries are the interface between pseudoautosomal and sex chromosome−specific DNA sequences. We have isolated a gene, PBDX, from the human pseudoautosomal boundary region of Xp. The three exons at the 5' end of PBDX are situated in the pseudoautosomal region immediately downstream of MIC2, whereas the other seven exons are in the X−speciflc region. Hence, PBDX is inherited in two modes: its 5' end is pseudoautosomally inherited and its 3' end is X−linked. The predicted amino acid sequence of the 540 bp coding region is 48% homologous to 12E7, the product of MIC2. By virtue of its position, PBDX becomes an excellent candidate for the XG blood group gene.
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