Linked Life Data

12719380

Source:http://linkedlifedata.com/resource/pubmed/id/12719380

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2003-4-29
pubmed:abstractText
The autosomal-recessive mutation hydrocephalus3 (hy3) results in lethal communicating hydrocephalus with perinatal onset. We recently described a hydrocephalus-inducing transgenic insertional mutation, OVE459, which represents a new allele of hy3. Direct cDNA selection performed on a wild-type mouse BAC clone spanning the OVE459 insertion locus on chromosome 8 led to the identification of two novel candidate genes, Hydin and Vac14. The transgene insertion resulted in a rearrangement of Hydin exons in OVE459 mice. Hydin consists of at least 86 exons spanning over 340 kb of genomic DNA. The full-length Hydin transcript is nearly 16 kb, encoding a putative 5099 amino acid protein. Northern analysis revealed a marked reduction of Hydin mRNA in both OVE459 and hy3 homozygotes relative to wild-type littermates. A single CG base-pair deletion in exon 15 of Hydin was discovered specifically in mice carrying the spontaneous hy3 mutant allele. This deletion creates a premature termination signal two codons downstream of the mutation, likely resulting in the loss of 89% of the full-length gene product. Within the neonatal brain, Hydin expression is confined to the ciliated ependymal cell layer lining the lateral, third and fourth ventricles. Other sites of Hydin expression include the ciliated epithelial cells lining the bronchi and oviduct, as well as in the developing spermatocytes in the testis. The Hydin gene product is not closely related to any previously identified protein, with the exception of a 314 amino acid domain with homology to caldesmon, an actin-binding protein, suggesting an interaction with the cytoskeleton.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1163-70
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene.
pubmed:affiliation
Division of Molecular and Human Genetics, Columbus Children's Research Institute, Columbus, OH 43205, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't