Review e//o///e Mammalian Genome 8, 543-544 (1997). 9 Springer-Verlag New York Inc. 1997 Mutation watch: PEX PLUS? Gene(s) for X-linked hypophosphatemia and deafness Miriam Meisler Department of Human Genetics, 4708 Medical Science II, University of Michigan, Ann Arbor, Michigan 48109-0618, USA Received: 4 April 1997 / Accepted: 17 April 1997 Three decades of work on X-linked hypophosphatemia in human selection, resulting in a eDNA contig that overlapped the patient and mouse reached fruition with the recent discovery of PEX, the deletions. Database sequence comparisons demonstrated that the "Phosphate regulating gene with homologies to Endopeptidases new gene, PEX, is a member of a subfamily of endopeptidases on the X chromosome" (HYP Consortium 1995; Strom et al. involved in activation and degradation of a variety of peptide 1997). The mouse story began in 1966, when six males with short- hormones. Other family members include neutral endopeptidase ened trunk and hindlimbs were discovered during a linkage ex- (NEP), endothelin-converting enzyme 1 (ECE-1) and the Kell an- periment at The Jackson Laboratory (Eicher et al. 1976). Bio- tigen. One interesting feature of PEX and related peptidases is the chemical detective work identified hypophosphatemia as a critical presence of a putative transmembrane domain near
Mammalian Genome – Springer Journals
Published: Apr 1, 2009
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