High impact information on Xmmv63

• The breakpoints on the X chromosome in these five translocations are in Xp22 [1].
• Microphthalmia with linear skin defects (MLS) is an X-linked dominant, male-lethal syndrome characterized by microphthalmia, aplastic skin and agenesis of the corpus callosum, and is caused by the deletion of a 500 kb critical region in Xp22 [2].
• The proximal half of the AZFa interval is occupied by pseudogene sequences with homology to Xp22 [3].
• SCML2 maps very close to the recently identified SCML1, revealing the presence of a new gene cluster in Xp22 [4].
• The gene maps close to DXS7101 31.9 cM from the short arm telomere of the X-chromosome at Xp22 [5].

Biological context of Xmmv63

• Our in silico search for candidate genes noted that annotation of a human Xp22 PAC (RPCI1-258N20) sequence (GenBank Accession No. AC002504) identified putative exons consistent with an Arx homologue in Xp22 [6].

Analytical, diagnostic and therapeutic context of Xmmv63

• Southern blot analysis of DNA from a variety of mammalian species shows restricted conservation of human pseudoautosomal genes, a trend that also applies to the two cloned mouse homologs of these genes and to neighboring human genes in distal Xp22 [7].

References