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A PDZ domain-containing protein with homology to Diphor-1 maps to human chromosome 1q21

Published online by Cambridge University Press:  01 July 1998

K. E. WHITE ,
J. BIBER ,
H. MURER  and
M. J. ECONS
K. E. WHITE
Affiliation:
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, U.S.A.
J. BIBER
Affiliation:
Institute of Physiology, University of Zurich, CH-8057 Zurich, Switzerland
H. MURER
Affiliation:
Institute of Physiology, University of Zurich, CH-8057 Zurich, Switzerland
M. J. ECONS
Affiliation:
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, U.S.A.
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Abstract

The novel gene, Diphor-1, was recently cloned from rat kidney and shown to increase phosphate uptake in cells when co-expressed with a Na+-Pi cotransporter, indicating that it may play a substantial role in cellular phosphate balance. Previously, the phosphate wasting disorder, autosomal dominant hypophosphatemic rickets (ADHR) was mapped to chromosome 12p13 by linkage analysis. In the present work, PDZK1, a PDZ domain-containing protein highly homologous to rat Diphor-1, was shown to be expressed in human kidney. Based upon its sequence similarity to rat Diphor-1, we considered PDZK1 a feasible candidate gene for ADHR. PDZK1 was found to localize to human chromosome 1q21, thereby ruling it out as a candidate for ADHR.

Type
Research Article
Information
Annals of Human Genetics , Volume 62 , Issue 4 , July 1998 , pp. 287 - 290
Copyright
© University College London 1998

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