COL1A1 (collagen, type I, alpha 1)

Expression and characterization of Xenopus type I collagen alpha 1 (COL1A1) during embryonic development.

A cDNA encoding Xenopus type I collagen alpha 1 (Xenopus COL1A1) has been isolated from an ovary cDNA library. The COL1A1 cDNA is approximately 5.7 kb pairs and encodes 1447 amino acids. The putative COL1A1 polypeptide shares high identities of amino acid sequence with other vertebrate COL1A1 proteins. The level of Xenopus COL1A1 transcripts was increased markedly in the posterior region of the...

COL 1 A 1 ( collagen , type I , alpha 1 )

The +1245g/t Polymorphisms in the Collagen Type I Alpha 1 (col1a1) Gene in Polish Skiers with Anterior Cruciate Ligament Injury

OBJECTIVES The aim of this study was to examine the association of +1245G/T polymorphisms in the COL1A1 gene with ACL ruptures in Polish male recreational skiers in a case-control study. METHODS A total of 138 male recreational skiers with surgically diagnosed primary ACL ruptures, all of whom qualified for ligament reconstruction, were recruited for this study. The control group comprised 18...

Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta.

Type I osteogenesis imperfecta (OI) is characterized clinically by a moderate fracture frequency with minimal bone deformity and dominant inheritance. Previous studies of the collagenous proteins synthesized by dermal fibroblasts obtained from unrelated patients with this form of OI suggested that the biochemical basis of the disease was reduced production of type I collagen. This study was des...

Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

Most forms of osteogenesis imperfecta are caused by dominant mutations in either of the two genes, COL1A1 and COL1A2, that encode the pro alpha 1(I) and pro alpha 2(I) chains of type I collagen, respectively. However, a severe, autosomal recessive form of OI type III with a comparatively high frequency has been recognised in the black populations of southern Africa. We preformed linkage analyse...