Linked Life Data

12733055

Source:http://linkedlifedata.com/resource/pubmed/id/12733055

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2003-5-21
pubmed:abstractText
Recessive mutations cause cystic kidney disease and a variable degree of biliary liver fibrosis in cpk mice. Recently, the responsible murine gene ( Cys1) was identified and expression in renal cilia demonstrated. Here we describe the cDNA cloning of the full-length coding region of the orthologous human CYS1 gene. CYS1 is located on Chromosome 2p25. The CYS1 genomic region comprises three coding exons, which span 22 kb. The transcript harbors an open reading frame of 477 nucleotides encoding a protein with 158 amino acid residues, which is called cystin. Northern analysis identified an expression pattern resembling that of murine Cys1. We studied affected individuals of eight families with nephronophthisis and liver fibrosis for evidence of CYS1 mutations. All three coding exons were amplified by polymerase chain reaction and directly sequenced. Despite the failure to detect a mutation, the human cystin gene remains an interesting candidate for recessive cystic kidney disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0931-041X
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
498-505
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.
pubmed:affiliation
Department of Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't