Canine COL1A2 mutation resulting in C-terminal truncation of pro-α2(I) and severe osteogenesis imperfecta

Journal of Bone and Mineral Research

Volumn 16, Issue 6, 2001, Pages 1147-1153

  Campbell, Bonnie G ^a,c   Wootton, Joyce A M ^b   Macleod, James N ^a   Minor, Ronald R ^a,b  

^a Department of Obstetrics Gynecology   (United States)

^b WASHINGTON STATE UNIVERSITY   (United States)

^c Animal Health Diagnostic Center   (United States)

Author keywords

Canine; COL1A2; Frameshift; Osteogenesis imperfecta; Pro 2(I)

Indexed keywords

COLLAGEN TYPE 1;

ARTICLE; DNA SEQUENCE; GENE MUTATION; HETEROZYGOSITY; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; OSTEOGENESIS IMPERFECTA; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS;

EID: 0034999307     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2001.16.6.1147     Document Type: Article

References (6)

1. Dalgleish R 1997 The human type I collagen mutation database. Nucleic Acids Res 25:181-187.
2. Dalgleish R 1998 The human collagen mutation database 1998. Nucleic Acids Res 26:253-255.
3. McBride DJ Jr, Kadler KE, Hojima Y, Prockop DJ 1992 Self-assembly into fibrils of a homotrimer of type I collagen. Matrix 12:256-263.
4. Bateman JF, Lamande SR, Dahl HH, Chan D, Mascara T, Cole WG 1989 A frameshift mutation results in a truncated non-functional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta. J Biol Chem 264:10960-10964.
5. Chessler SD, Wallis GA, Byers PH 1993 Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta. J Biol Chem 268:18218-18225.
6. Deak SB, Nicholls A, Pope FM, Prockop DJ 1983 The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of pro-alpha 2(I) chains which are not incorporated into trimers of type I procollagen. J Biol Chem 258:15192-15197.