Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

Journal Article · Tue May 01 00:00:00 EDT 1990 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.87.10.3889· OSTI ID:5451497

Tiller, G E ^[1]; Rimoin, D L; Cohn, D H ^[2]; Murray, L W ^[3]

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1. Cedars-Sinai Medical Center, Los Angeles, Ca (USA)
2. Cedars-Sinai Medical Center, Los Angeles, CA (USA) Univ. of California, Los Angeles (USA)
3. Harbor-UCLA Medical Center, Torrance, CA (USA)

The authors have characterized a mutation in the type II collagen gene (COL2A1) that produces a form of spondyloepiphyseal dysplasia. The mutation is an internal tandem duplication of 45 base pairs within exon 48 and results in the addition of 15 amino acids to the triple-helical domain of the {alpha}1 chains of type II collagen derived from the abnormal allele. Although the repeating (Gly-Xaa-Yaa){sub n} motif that characterizes the triple-helical domain is preserved, type II collagen derived from cartilage of the affected individual contains a population with excessive posttranslational modification, consistent with a disruption in triple-helix structure. The mutation is not carried by either parent, indicating that the phenotype in the affected individual is due to a new dominant mutation. DNA sequence homology in the area of the duplication suggests that the mutation may have arisen by unequal crossover between related sequences, a proposed mechanism in the evolution and diversification of the collagen gene family.

• OSTI ID: 5451497
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 87:10; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
COLLAGEN
DOMINANT MUTATIONS
GENES
DNA SEQUENCING
DNA HYBRIDIZATION
ELECTROPHORESIS
GENE AMPLIFICATION
GENE MUTATIONS
MAN
PHENOTYPE
PHOSPHORUS 32
ANIMALS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
DAYS LIVING RADIOISOTOPES
HYBRIDIZATION
ISOTOPES
LIGHT NUCLEI
MAMMALS
MUTATIONS
NUCLEI
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
PHOSPHORUS ISOTOPES
PRIMATES
PROTEINS
RADIOISOTOPES
SCLEROPROTEINS
STRUCTURAL CHEMICAL ANALYSIS
VERTEBRATES
550201* - Biochemistry- Tracer Techniques