Literature DB >> 10702664

cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP).

L Tonachini1, R Morello, M Monticone, J Skaug, S W Scherer, R Cancedda, P Castagnola.   

Abstract

We have recently isolated and characterized cDNA clones coding for a novel developmentally regulated avian and mouse embryo protein, CASP for Cartilage Associated Protein. Here we describe the isolation and characterization of the gene coding for the human CASP. The comparison of the putative human and mouse protein sequences with the chick sequence revealed an overall high identity (89% and 51%, respectively). Homology search with known DNA and protein sequences showed that CASPs are related to two mammalian nuclear proteins. Here we demonstrate definitively that CASPs are distinct from these nuclear proteins. However, sequence comparison analyses suggest that all of these proteins belong to a new family. In all human tissues examined two CASP mRNA species were detected, whereas a single mRNA and three mRNAs were found in chick and mouse, respectively. The human CASP gene (CRTAP) was assigned to chromosome 3p22 by fluorescence in situ hybridization. Copyright 2000 S. Karger AG, Basel

Entities:  

Mesh:

Substances:

Year:  1999        PMID: 10702664     DOI: 10.1159/000015463

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN: 0301-0171


  4 in total

1.  Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.

Authors:  Wayne A Cabral; Weizhong Chang; Aileen M Barnes; MaryAnn Weis; Melissa A Scott; Sergey Leikin; Elena Makareeva; Natalia V Kuznetsova; Kenneth N Rosenbaum; Cynthia J Tifft; Dorothy I Bulas; Chahira Kozma; Peter A Smith; David R Eyre; Joan C Marini
Journal:  Nat Genet       Date:  2007-02-04       Impact factor: 38.330

2.  Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

Authors:  Aileen M Barnes; Weizhong Chang; Roy Morello; Wayne A Cabral; MaryAnn Weis; David R Eyre; Sergey Leikin; Elena Makareeva; Natalia Kuznetsova; Thomas E Uveges; Aarthi Ashok; Armando W Flor; John J Mulvihill; Patrick L Wilson; Usha T Sundaram; Brendan Lee; Joan C Marini
Journal:  N Engl J Med       Date:  2006-12-28       Impact factor: 91.245

Review 3.  Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.

Authors:  Joan C Marini; Wayne A Cabral; Aileen M Barnes
Journal:  Cell Tissue Res       Date:  2009-10-28       Impact factor: 5.249

Review 4.  Modeling Rare Bone Diseases in Animals.

Authors:  Charles A O'Brien; Roy Morello
Journal:  Curr Osteoporos Rep       Date:  2018-08       Impact factor: 5.096

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.