Document Detail


Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.
MedLine Citation:
PMID:  8640225     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Hereditary haemorrhagic telangiectasia, or Osler-Rendu-Weber (ORW) syndrome, is an autosomal dominant vascular dysplasia. So far, two loci have been demonstrated for ORW. Linkage studies established an ORW locus at chromosome 9q3; endoglin was subsequently identified as the ORW1 gene. A second locus, designated ORW2, was mapped to chromosome 12. Here we report a new 4 cM interval for ORW2 that does not overlap with any previously defined. A 1.38-Mb YAC contig spans the entire interval. It includes the activin receptor like kinase 1 gene (ACVRLK1 or ALK1), a member of the serine-threonine kinase receptor family expressed in endothelium. We report three mutations in the coding sequence of the ALK1 gene in those families which show linkage of the ORW phenotype to chromosome 12. Our data suggest a critical role for ALK1 in the control of blood vessel development or repair.
Authors:
D W Johnson; J N Berg; M A Baldwin; C J Gallione; I Marondel; S J Yoon; T T Stenzel; M Speer; M A Pericak-Vance; A Diamond; A E Guttmacher; C E Jackson; L Attisano; R Kucherlapati; M E Porteous; D A Marchuk
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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:  Nature genetics     Volume:  13     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1996 Jun 
Date Detail:
Created Date:  1996-07-16     Completed Date:  1996-07-16     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  189-95     Citation Subset:  IM    
Affiliation:
Department of Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/L11695;  U04692;  U05209;  U11442;  Z22533;  Z22534;  Z22535;  Z22536;  Z23143
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MeSH Terms
Descriptor/Qualifier:
Activin Receptors
Amino Acid Sequence
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 12*
Female
Humans
Male
Molecular Sequence Data
Mutation*
Pedigree
Protein-Serine-Threonine Kinases / genetics*
Telangiectasia, Hereditary Hemorrhagic / classification,  genetics*
Grant Support
ID/Acronym/Agency:
1F32 HL09349/HL/NHLBI NIH HHS; 1F32 HL09394/HL/NHLBI NIH HHS; HL 49171/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
EC 2.7.11.1/Protein-Serine-Threonine Kinases; EC 2.7.11.30/Activin Receptors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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