Abstract:
:Recently the second gene for autosomal dominant polycystic kidney disease (ADPKD), located on chromosome 4q21-q22, has been cloned and characterized. The gene encodes an integral membrane protein, polycystin-2, that shows amino acid similarity to the PKD1 gene product and to the family of voltage-activated calcium (and sodium) channels. We have systematically screened the gene for mutations by single-strand conformation-polymorphism analysis in 35 families with the second type of ADPKD and have identified 20 mutations. So far, most mutations found seem to be unique and occur throughout the gene, without any evidence of clustering. In addition to small deletions, insertions, and substitutions leading to premature translation stops, one amino acid substitution and five possible splice-site mutations have been found. These findings suggest that the first step toward cyst formation in PKD2 patients is the loss of one functional copy of polycystin-2.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Veldhuisen B,Saris JJ,de Haij S,Hayashi T,Reynolds DM,Mochizuki T,Elles R,Fossdal R,Bogdanova N,van Dijk MA,Coto E,Ravine D,Nørby S,Verellen-Dumoulin C,Breuning MH,Somlo S,Peters DJdoi
10.1086/515497subject
Has Abstractpub_date
1997-09-01 00:00:00pages
547-55issue
3eissn
0002-9297issn
1537-6605pii
S0002-9297(07)64318-3journal_volume
61pub_type
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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