D. Kipling et al., HIGH-FREQUENCY DE-NOVO ALTERATIONS IN THE LONG-RANGE GENOMIC STRUCTURE OF THE MOUSE PSEUDOAUTOSOMAL REGION, Nature genetics, 13(1), 1996, pp. 78-82
The pseudoautosomal region (PAR) is a segment of shared homology betwe
en the X and Y chromosomes. Here we report physical linkage of three m
ouse PAR probes: DXYHgu1, DXYMov15 and (TTAGGG)(n). Steroid sulphatase
(Sts) maps distal to these three probes, indicating that there is an
internal array of the telomere sequence (TTAGGG)(n) in the PAR. Pseudo
autosomal Pad restriction fragments, up to 2 Mb in size, are unstable
in C57BL/6 x C57BL/6 crosses. New alleles, often several hundred kilob
ases different in size, occur at a sex-averaged rate of similar to 30%
per allele. Such frequent large-scale germ-line genome rearrangements
are without precedent in mammals.