Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes

• DOI: 10.1038/317692a0
• Publication Date: 2004-11-18T03:45:56Z
• Authors: Marie-Christine S...; François Rouyer; Gilles Vergnaud; Minna Nyström-Lahti; Kim Yen Ngo; Albert de la Chap...; Jean Weissenbach
• Keywords: Pseudoautosomal region; Cosmid; Repeated sequence

A DNA probe from a human Y chromosome-derived cosmid detects a single-copy genomic DNA fragment which can appear in different allelic forms shared by both sex chromosomes. Variants at this DNA locus show an autosomal pattern of inheritance, undergo recombination with sexual phenotype and can therefore be described as 'pseudoautosomal'. Another probe from the same cosmid detects a sequence repeated 15-20 times per haploid genome. These repeats also appear pseudoautosomal and map exclusively to the short-arm terminal region of each sex chromosome.