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The human collagen X gene. Complete primary translated sequence and chromosomal localization
J T Thomas1, C J Cresswell, B Rash
1Department of Biochemistry and Molecular Biology, School of Biological Sciences, University of Manchester, U.K.
The Biochemical Journal
|December 15, 1991
Summary
Researchers determined the full sequence of human alpha 1(X) collagen and located its gene (COL10A1) on chromosome 6. This collagen is crucial for bone development and is encoded by two specific exons.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Collagen X (COL10A1) is a crucial protein in endochondral ossification.
- Understanding its genetic structure and location is vital for studying skeletal disorders.
Purpose of the Study:
- To determine the complete primary translated sequence of human alpha 1(X) collagen.
- To identify the chromosomal localization of the human collagen X gene (COL10A1).
Main Methods:
- Deduction of the translated sequence from a genomic clone.
- Exon-intron structure analysis.
- Somatic cell hybrid screening and in situ hybridization for gene mapping.
Main Results:
- The human collagen X gene is encoded by two exons (169 bp and approx. 2940 bp).
- The gene structure includes untranslated regions, signal peptide, N-terminal, triple-helical, and C-terminal domains.
- The COL10A1 gene is localized to chromosome 6q21-6q22.3.
Conclusions:
- The complete sequence and exon structure of human alpha 1(X) collagen have been elucidated.
- The COL10A1 gene's precise chromosomal location provides a basis for further genetic and disease-related research.