Human Molecular Genetics, 1999, Vol. 8, No. 10 1883-1891
© 1999 Oxford University Press
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A family of mammalian anion transportersand their involvement in human genetic diseases
Genome Technology Branch, National Human Genome ResearchInstitute, National Institutes of Health, Bethesda, MD 20892, USA
ABSTRACT
Tremendous advances in human genetics have been madein recent years, as the fruits of the Human Genome Project are facilitatingthe identification of genes associated with myriad genetic diseases.Among the many triumphs in positional (and positional candidate)cloning are a number of cases where apparently unrelated diseaseshave been found to share common genetic origins. A vivid exampleof this has unfolded in the past few years with the identificationof the genes causing diastrophic dysplasia, congenital chloridediarrhoea and Pendred syndrome. While these three disorders areclinically distinct, the associated genes (DTDST, CLD and PDS, respectively) emanatefrom a well conserved family of genes that all encode anion transporters.Our current knowledge of these diseases coupled with new insightsabout the implicated genes and proteins illustrates the complexnature of mammalian genomes, especially with respect to the evolutionarysubtleties of protein families and tissue-specific gene expression.
FOOTNOTES
a To whom correspondenceshould be addressed. Tel: +1 301 402 0201; Fax: +1301 402 4735; Email: egreen{at}nhgri.nih.gov
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