Collagen, type XI, alpha 1 explained

Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.^{[1] [2]}

Function

The COL11A1 gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Three transcript variants encoding different isoforms have been identified for this gene.^[2]

Clinical significance

Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome.^[2]

Stickler syndrome, type II is an autosomal dominant condition caused by a mutation in the COL11A1 gene. Features of Stickler syndrome type II include: sensorineural hearing loss, facial features (flat facial profile, anteverted nares, micrognathia), cleft palate, visual disturbances (type 2 vitreous anomaly, childhood-onset myopia, glaucoma, cataracts and retinal detachment), spondyloepiphyseal dysplasia, and arthropathy.

External links

• GeneReviews/NCBI/NIH/UW entry on Stickler Syndrome

Further reading

• Yoshioka H, Ramirez F . Pro-alpha 1(XI) collagen. Structure of the amino-terminal propeptide and expression of the gene in tumor cell lines. . J. Biol. Chem. . 265 . 11 . 6423–6 . 1990 . 10.1016/S0021-9258(19)39343-3 . 1690726 . free .
• Hanson IM, Gorman P, Lui VC . The human alpha 2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex on chromosome 6. . Genomics . 5 . 4 . 925–31 . 1990 . 2591970 . 10.1016/0888-7543(89)90135-3 . etal.
• Henry I, Bernheim A, Bernard M . Mapping of a human fibrillar collagen gene, pro alpha 1 (XI) (COL11A1), to the p21 region of chromosome 1. . Genomics . 3 . 1 . 87–90 . 1989 . 3220479 . 10.1016/0888-7543(88)90165-6 . etal.
• Keene DR, Oxford JT, Morris NP . Ultrastructural localization of collagen types II, IX, and XI in the growth plate of human rib and fetal bovine epiphyseal cartilage: type XI collagen is restricted to thin fibrils. . J. Histochem. Cytochem. . 43 . 10 . 967–79 . 1995 . 7560887 . 10.1177/43.10.7560887. free .
• Zhidkova NI, Justice SK, Mayne R . Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains. . J. Biol. Chem. . 270 . 16 . 9486–93 . 1995 . 7721876 . 10.1074/jbc.270.16.9486. free .
• Yoshioka H, Greenwel P, Inoguchi K . Structural and functional analysis of the promoter of the human alpha 1(XI) collagen gene. . J. Biol. Chem. . 270 . 1 . 418–24 . 1995 . 7814404 . 10.1074/jbc.270.1.418 . etal. free .
• Dharmavaram RM, Baldwin CT, Reginato AM, Jimenez SA . Amplification of cDNAs for human cartilage-specific types II, IX and XI collagens from chondrocytes and Epstein-Barr virus-transformed lymphocytes. . Matrix . 13 . 2 . 125–33 . 1993 . 8388073 . 10.1016/s0934-8832(11)80071-5.
• Richards AJ, Yates JR, Williams R . A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. . Hum. Mol. Genet. . 5 . 9 . 1339–43 . 1997 . 8872475 . 10.1093/hmg/5.9.1339 . etal. free .
• Shrivastava A, Radziejewski C, Campbell E . An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors. . Mol. Cell . 1 . 1 . 25–34 . 1998 . 9659900 . 10.1016/S1097-2765(00)80004-0 . etal. free .
• Annunen S, Körkkö J, Czarny M . Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. . Am. J. Hum. Genet. . 65 . 4 . 974–83 . 2000 . 10486316 . 10.1086/302585 . 1288268 . etal.
• Fischer H, Salahshor S, Stenling R . COL11A1 in FAP polyps and in sporadic colorectal tumors. . BMC Cancer . 1. 17 . 2002 . 11707154 . 10.1186/1471-2407-1-17 . 59693 . etal . free .
• Jun AS, Liu SH, Koo EH . Microarray analysis of gene expression in human donor corneas. . Arch. Ophthalmol. . 119 . 11 . 1629–34 . 2001 . 11709013 . 10.1001/archopht.119.11.1629. etal. free .
• Urabe K, Jingushi S, Ikenoue T . Immature osteoblastic cells express the pro-alpha2(XI) collagen gene during bone formation in vitro and in vivo. . J. Orthop. Res. . 19 . 6 . 1013–20 . 2002 . 11780999 . 10.1016/S0736-0266(01)00043-2 . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Melkoniemi M, Koillinen H, Männikkö M . Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. . Eur. J. Hum. Genet. . 11 . 3 . 265–70 . 2003 . 12673280 . 10.1038/sj.ejhg.5200950 . etal. free .
• Matsuo N, Yu-Hua W, Sumiyoshi H . The transcription factor CCAAT-binding factor CBF/NF-Y regulates the proximal promoter activity in the human alpha 1(XI) collagen gene (COL11A1). . J. Biol. Chem. . 278 . 35 . 32763–70 . 2003 . 12805369 . 10.1074/jbc.M305599200 . etal. free .
• Poulson AV, Hooymans JM, Richards AJ . Clinical features of type 2 Stickler syndrome. . J. Med. Genet. . 41 . 8 . e107 . 2004 . 15286167 . 10.1136/jmg.2004.018382 . 1735871 . etal.
• Kimura K, Wakamatsu A, Suzuki Y . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . etal.
• Majava M, Hoornaert KP, Bartholdi D . A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. . Am. J. Med. Genet. A . 143 . 3 . 258–64 . 2007 . 17236192 . 10.1002/ajmg.a.31586 . 43244117 . etal.

Notes and References

1. Bernard M, Yoshioka H, Rodriguez E, Van der Rest M, Kimura T, Ninomiya Y, Olsen BR, Ramirez F . Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue . J Biol Chem . 263 . 32 . 17159–66 . Dec 1988 . 10.1016/S0021-9258(18)37512-4 . 3182841 . free .
2. Web site: Entrez Gene: COL11A1 collagen, type XI, alpha 1.