Rapid evolution of human pseudoautosomal genes and their mouse homologs |
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Authors: | J W Ellison X Li U Francke L J Shapiro |
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Institution: | (1) Department of Pediatrics, University of California, San Francisco, California 94143, USA, US;(2) Howard Hughes Medical Institute, Stanford University Medical Center, Stanford, California 94305, USA, US;(3) Department of Genetics, Stanford University Medical Center, Stanford, California 94305, USA, US;(4) Department of Pediatrics, Stanford University Medical Center, Stanford, California 94305, USA, US |
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Abstract: | Comparative studies of genes in the pseudoautosomal region (PAR) of human and mouse sex chromosomes have thus far been very
limited. The only comparisons that can presently be made indicate that the PARs of humans and mice are not identical in terms
of gene content. Here we describe additional comparative studies of human pseudoautosomal genes and their mouse homologs.
Using a somatic cell hybrid mapping panel, we have assigned the mouse homolog of the human pseudoautosomal interleukin 3 receptor
alpha subunit (IL3RA) gene to mouse Chromosome (Chr) 14. Attempts to clone the mouse homolog of the human pseudoautosomal
adenine nucleotide translocase-3 (ANT3) gene resulted in the isolation of the murine homologs of the human ANT1 and ANT2 genes.
The mouse Ant1 and Ant2 genes are very similar in sequence to their human homologs, and we have mapped them to mouse Chromosomes (Chrs) (8 and X
respectively) that exhibit conserved synteny with the chromosomes on which the human genes are located. In contrast, the homolog
of ANT3 appears to be either very divergent or absent from the mouse genome. 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 Xp22.3. Our observations combined with those of other
workers lead us to propose a model for the evolution of the PAR that includes both rapid sequence evolution and the incremental
reduction in size of the region during mammalian evolution.
Received: 4 May 1995 / Accepted: 21 August 1995 |
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