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© 1993 Oxford University Press

OTHER

The genomic organisation of the human pseudoautosomal gene MIC2 and the detection of a related locus

Matthijs J. Smith, Paul J. Goodfellow1 and Peter N. Goodfellow2,*

Walter and Eliza Hall Institute of Medical Research, Post Office, Royal Melbourne Hospital Victoria 3050, Australia 1Department of Medical Genetics, University of British Columbia, 226 Westbrook Bldg, 6174 University Boulevard Vancouver BC V6T 1W5, Canada 2Department of Genetics, University of Cambridge Downing St, Cambridge CB2 3EH, UK

* To whom correspondence should be addressed

Received November 25, 1992; Revised January 22, 1993; Accepted January 22, 1993

The human pseudoautosomal gene MIC2 encodes a 185 amino acid cell surface antigen recognised by the monoclonal antibody 12E7. The gene is abundantly expressed in all tissues tested and a role in cell-cell interactions has been suggested. We describe here the isolation of 95kb of genomic DNA encompassing the entire MIC2 gene. The gene is 52kb in size and orientated towards the centromere. As predicted by previous genetic studies, the 5' end of MIC2 is located 95kb from the pseudoautosomal boundary and confirming that the elevated rate of recombination in pseudoautosomal region is continuous up to the boundary. The gene is divided into ten exons which show correlation with predicted domains of the protein and are considerably smaller than the average for mammalian genes. Evolutionary studies indicate that the gene can be detected by DNA hybridisation only in primates, however genomic probes for both exons 1 and 5 detect related locus present on both the human X and Y chromosomes.


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