The human α2(XI) collagen gene (COL1 1A2): Completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene

Genomics

Volumn 32, Issue 3, 1996, Pages 401-412

  Lui, Vincent C H ^a   Ng, Ling Jim ^a   Sat, Eric W Y ^a   Cheah, Kathryn S E ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN FIBRIL;

ALTERNATIVE RNA SPLICING; AMINO TERMINAL SEQUENCE; ARTICLE; CHONDRODYSPLASIA; CHROMOSOMAL LOCALIZATION; CHROMOSOME 6; COSMID; EXTRACELLULAR MATRIX; GENE LOCATION; GENE MUTATION; GENETIC ORGANIZATION; HUMAN; HUMAN CELL; MAJOR HISTOCOMPATIBILITY COMPLEX; PRIORITY JOURNAL; PROMOTER REGION;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 6; DNA-BINDING PROTEINS; EXONS; GENES; HUMANS; INTRONS; MAJOR HISTOCOMPATIBILITY COMPLEX; MICE; MOLECULAR SEQUENCE DATA; POLY A; PROCOLLAGEN; PROMOTER REGIONS (GENETICS); RESTRICTION MAPPING; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 0029918429     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0135     Document Type: Article

References (37)

1. Abe, K., Wei, J. F., Wei, F. S., Hsu, Y. C., Uehara, H., Artzt, K., and Bennett, D. (1988). Searching for coding sequences in the mammalian genome: The H-2K region of the mouse MHC is replete with genes expressed in embryos. EMBO J. 7: 3441-3449.
2. Burgeson, R. E., and Hollister, D. W. (1979). Collagen heterogeneity in human cartilage: Identification of several new collagen chains. Biochem. Biophys. Res. Commun. 87: 1124-1131.
3. Cheah, K. S. E., Lau, E. T., Au, P. K. C., and Tam, P. P. L. (1991). Expression of the mouse α1(II) collagen gene is not restricted to cartilage during development. Development 111: 945-953.
4. Chu, M. L., and Prockop, D. J. (1993). "Collagen: Gene Structure in Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects," pp. 149-166, Wiley-Liss, New York.
5. Devereux, J., Haeberli, P., and Smithies, O. (1984). A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res. 12: 387-395.
6. Dion, A. S., and Myers, J. C. (1987). COOH-terminal propeptides of the major human procollagens: Structural, functional and genetic comparison. J. Mol. Biol. 193: 127-143.
7. Eyre, D., and Wu, J. J. (1987). Type XI or 1α2α3α collagen. In "Structure and Function of Collagen Types" (R. Mayne and R. E. Burgeson, Eds.), pp. 261-281, Academic Press, Orlando.
8. Green, M. R. (1991). Biochemical mechanisms of constitutive and regulated pre-mRNA splicing. Annu. Rev. Cell Biol. 7: 559-599.
9. Grunert, S., and Jackson, R. J. (1994). The immediate downstream codon strongly influences the efficiency of utilization of eukaryotic translation initiation codons. EMBO J. 13: 3618-3630.
10. Hanson, I. M., Gorman, P., Lui, V. C. H., Cheah, K. S. E., Solomon, E., and Trowsdale, J. (1989). The human alpha 2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex on chromosome 6. Genomics 5: 925-931.
11. Henikoff, S. (1987). Unidirectional digestion with exonuclease III in DNA sequence analysis. Methods Enzymol. 155: 156-165.
12. Kimura, T., Cheah, K. S. E., Chan, S. D. H., Lui, V. C. H., Mattei, M. G., Van der Rest, M., Ono, K., Solomon, E., Ninomiya, Y., and Olsen, B. R. (1989). The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization. J. Biol. Chem. 264: 13910-13916.
13. Koller, E., and Trueb, B. (1992). Characterization of the chicken α1(VI) collagen promoter. Eur. J. Biochem. 208: 769-774.
14. Li, Y., Lacerda, M. L., Warman, M. L., Beier, D. R., Yoshioka, H., Ninomiya, Y., Oxford, J. T., Morris, N. P., Andrikopoulos, K., Ramirez, F., Wardell, B. B., Lifferth, G. D., Teuscher, C., Woodward, S. R., Taylor, B. A., Seegmiller, R. E., and Olsen, B. R. (1995). A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell 80: 423-430.
15. 2-terminal domain, a putative regulator of corneal fibrillogenesis. J. Cell Biol. 121: 1181-1189.
16. Lui, V. C. H., Kong, R. Y. C., Nicholls, J., Cheung, A. N. Y., and Cheah, K. S. E. (1995). The mRNAs for the three chains of collagen type XI are widely distributed but not necessarily co-expressed: Implications for homotrimeric, heterotrimeric and heterotypic polymers. Biochem. J. 311: 511-516.
17. Nagata, T., Weiss, E. H., Abe, K., Kitagawa, K., Ando, A., YaraKikuti, Y., Seldin, M. F., Ozato, K., Inoko, H., and Taketo, M. (1995). Physical mapping of the retinoid X receptor B gene in mouse and human. Immunogenetics 41: 83-90.
18. Ng, L. J., Tam, P. P. L., and Cheah, K. S. E. (1993). Preferential expression of alternatively spliced mRNAs encoding type II procollagen with a cysteine-rich amino-propeptide in differentiating cartilage and nonchondrogenic tissues during early mouse development. Dev. Biol. 159: 403-417.
19. Oxford, J. T., Doege, K. J., and Morris, N. P. (1995). Alternative exon splicing within the amino-terminal nontriple-helical domain of the rat pro-α1(XI) collagen chain generates multiple forms of the mRNA transcript which exhibit tissue-dependent variation. J. Biol. Chem. 270: 9478-9485.
20. Perlman, D., and Halvorson, H. O. (1983). A putative signal peptidase recognition site and sequence in eukaryotic and prokaryotic signal peptides. J. Mol. Biol. 167: 391-409.
21. Powis, S. H., and Trowsdale, J. (1994). Human major histocompatibility complex genes. Behring Inst. Mitt. 94: 17-25.
22. Sandberg, M. M., Hirvonen, H. E., Elima, K. J. M., and Vuorio, E. I. (1993). Co-expression of collagens II and XI and alternative splicing of exon 2 of collagen II in several developing human tissues. Biochem. J. 294: 595-602.
23. Sanger, F., Nicklen, S., and Coulson, A. R. (1992). DNA sequencing with chain-terminating inhibitors. Biotechnology 24: 104-108.
24. Shapiro, M. B., and Senapathy, P. (1987). RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15: 7155-7174.
25. Steinmetz, M., Stephan, D., and Fischer-Lindahl, K. (1986). Gene organization and recombination hotspots in the murine major histocompatibility complex. Cell 44: 895-904.
26. Stubbs, L., Lui, V. C. H., Ng, L. J., and Cheah, K. S. E. (1993). The alpha 2(XI) collagen gene lies within 8 kb of Pb in the proximal portion of the murine major histocompatibility complex. Mamm. Genome 4: 95-103.
27. Truter, S., Andrikopoulos, K., Di Liberto, M., Womack, L., and Ramirez, F. (1993). Pro-α2(V) collagen gene: Pairwise analysis of the amino-propeptide coding domain, and cross-species comparison of the promoter sequence. Connect. Tissue Res. 29: 51-59.
28. Tsumaki, N., and Kimura, T. (1995). Differential expression of an acidic domain in the amino-terminal propeptide of mouse proα2(XI) collagen by complex alternative splicing. J. Biol. Chem. 270: 2372-2378.
29. Uehara, H., Abe, K., Park, C-H. T., Shin, H-S., Bennett, D., and Artzt, K. (1987). The molecular organization of the H-2K region of two t-haplotypes: Implications for the evolution of genetic diversity. EMBO J. 6: 83-90.
30. Van der Rest, M., and Bruckner, P. (1993). Collagens: Diversity at the molecular and supramolecular levels. Curr. Opin. Struct. Biol. 3: 430-436.
31. Vikkula, M., Mariman, E. C. M., Lui, V. C. H., Zhidkova, N. I., Tiller, G. E., Goldring, M. B., Van Beersum, S. E. C., de Waal Malefijt, M. C., van den Hoogan, F. H. J., Ropers, H.-H., Mayne, R., Cheah, K. S. E., Olsen, B. R., Warman, M. L., and Brunner, H. G. (1995). Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 80: 431-438.
32. Wahle, E., and Keller, W. (1992). The biochemistry of 3′-end cleavage and polyadenylation of messenger RNA precursors. Annu. Rev. Biochem. 61: 419-440.
33. Wickens, M. (1990). How the messenger got its tail: Addition of poly(A) in the nucleus. Trends Biochem. Sci. 15: 277-281.
34. Wilson, T., and Treisman, R. (1988). Removal of poly(A) and consequent degradation of c-fos mRNA facilitated by 3′ AU-rich sequences. Nature 336: 396-399.
35. Yoshioka, H., Greenwel, P., Inoguchi, K., Truter, S., Inagaki, Y., Ninomiya, Y., and Ramirez, F. (1995). Structural and functional analysis of the promoter of the human α1(XI) collagen gene. J. Biol. Chem. 270: 418-424.
36. 2-terminal domain of the collagen α2(XI) chain. FEBS Lett. 326: 25-28.
37. Zhidkova, N. I., Justice, S. K., and Mayne, R. (1995). Alternative mRNA processing occurs in the variable region of the pro-α1(XI) and pro-α2(XI) collagen chains. J. Biol. Chem. 270: 9486-9493.