Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp

Nathan A. Ellis, Tian Zhang Ye, Susan Patton, James German, Peter N. Goodfellow, Polly Weller

Research output: Contribution to journalArticle

71 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)394-400
Number of pages7
JournalNature Genetics
Volume6
Issue number4
DOIs
StatePublished - Apr 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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