Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains

American Journal of Human Genetics

Volumn 59, Issue 4, 1996, Pages 799-809

  Willing, Marcia C ^a   Deschenes, Sachi P ^b   Slayton, Rebecca L ^b   Roberts, Erik J ^b  

^a UNIVERSITY OF IOWA   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; COMPLEMENTARY DNA; MESSENGER RNA;

ALLELE; ARTICLE; CELL STRAIN; CONTROLLED STUDY; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; NONSENSE MUTATION; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; RNA METABOLISM; RNA SPLICING; RNA TRANSLATION;

ALLELES; BASE SEQUENCE; COLLAGEN; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOGENESIS IMPERFECTA; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN PRECURSORS; RESTRICTION MAPPING; RNA SPLICING; TERMINATOR REGIONS (GENETICS);

EID: 0029794061     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Barsh GS, David KE, Byers PH (1982) Type I osteogenesis imperfecta: a nonfunctional allele for proα1 (I) chains of type I procollagen. Proc Natl Acad Sci USA 79:3838-3842
2. Baserga SJ, Benz EJ (1988) Nonsense mutations in the human ß-globin gene affect mRNA metabolism. Proc Natl Acad Sci USA 85:2056-2060
3. _ (1992) ß-Globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability. Proc Natl Acad Sci USA 89:2935-2939
4. Belgrader P, Cheng J, Zhou X, Stephenson LS, Maquat LE (1994) Mammalian nonsense codons can be cis effectors of nuclear mRNA half-life. Mol Cell Biol 14:8219-8228
5. Belgrader P, Maquat LE (1994) Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping. Mol Cell Biol 4: 6326-6336