Document Detail

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene.
MedLine Citation:
PMID:  12116208     Owner:  NLM     Status:  MEDLINE    
Autosomal recessive polycystic kidney disease (ARPKD) is an often devastating form of polycystic kidney disease that presents primarily in infancy. The locus, PKHD1 (polycystic kidney and hepatic disease 1), on chromosome 6p21.1-p12, has been linked to all classical forms of this disorder. In previous studies, we cloned the PKHD1 interval in a set of overlapping YACs, converted this YAC-based framework into a BAC/PAC contig, and delimited the critical interval to a region flanked by the markers D6S1714 and D6S1024. We now have refined the genetic interval using new polymorphic markers developed from our BAC/PAC resources. In addition, we have evaluated a recently identified, EF hand-containing gene that maps to the interval of interest, established its transcript sequence, defined its genomic organization, and excluded this new gene as a PKHD1 candidate. Therefore, this study has narrowed the PKHD1 interval and excluded a potentially relevant gene as a PKHD1 candidate gene. This further refinement of the PKHD1 interval will facilitate efforts to identify the PKHD1 gene by positional cloning. These data also provide additional, highly polymorphic markers for haplotype-based diagnostic testing for ARPKD.
Luiz F Onuchic; Michal Mrug; Xiaoying Hou; Thomas Eggermann; Carsten Bergmann; Klaus Zerres; Ellis D Avner; Laszlo Furu; Stefan Somlo; Yasuyuki Nagasawa; Gregory G Germino; Lisa M Guay-Woodford
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  110     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2002 Jul 
Date Detail:
Created Date:  2002-07-12     Completed Date:  2002-10-25     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  346-52     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
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MeSH Terms
Amino Acid Sequence
Base Sequence
Blotting, Northern
Chromosome Mapping
Chromosomes, Human, Pair 6 / genetics
Gene Expression
Genetic Predisposition to Disease / genetics
Microsatellite Repeats
Molecular Sequence Data
Polycystic Kidney, Autosomal Recessive / genetics*
RNA, Messenger / genetics,  metabolism
Receptors, Cell Surface / genetics*
Grant Support
Reg. No./Substance:
0/PKHD1 protein, human; 0/RNA, Messenger; 0/Receptors, Cell Surface

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