Collagen, type XI, alpha 1
Collagen alpha-1(XI) chainis aproteinthat in humans is encoded by theCOL11A1gene.[5][6]
Function[edit]
The COL11A1 gene encodes one of the two alpha chains of type XIcollagen,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.[6]
Clinical significance[edit]
Mutations in this gene are associated with type IIStickler syndromeand withMarshall syndrome.[6]
Stickler syndrome, type II is an autosomal dominant condition caused by a mutation in theCOL11A1gene. 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.
References[edit]
- ^abcGRCh38: Ensembl release 89: ENSG00000060718–Ensembl,May 2017
- ^abcGRCm38: Ensembl release 89: ENSMUSG00000027966–Ensembl,May 2017
- ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^Bernard M, Yoshioka H, Rodriguez E, Van der Rest M, Kimura T, Ninomiya Y, Olsen BR, Ramirez F (Dec 1988)."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.doi:10.1016/S0021-9258(18)37512-4.PMID3182841.
- ^abc"Entrez Gene: COL11A1 collagen, type XI, alpha 1".
External links[edit]
Further reading[edit]
- Yoshioka H, Ramirez F (1990)."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.doi:10.1016/S0021-9258(19)39343-3.PMID1690726.
- Hanson IM, Gorman P, Lui VC, et al. (1990). "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.doi:10.1016/0888-7543(89)90135-3.PMID2591970.
- Henry I, Bernheim A, Bernard M, et al. (1989). "Mapping of a human fibrillar collagen gene, pro alpha 1 (XI) (COL11A1), to the p21 region of chromosome 1".Genomics.3(1): 87–90.doi:10.1016/0888-7543(88)90165-6.PMID3220479.
- Keene DR, Oxford JT, Morris NP (1995)."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.doi:10.1177/43.10.7560887.PMID7560887.
- Zhidkova NI, Justice SK, Mayne R (1995)."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.doi:10.1074/jbc.270.16.9486.PMID7721876.
- Yoshioka H, Greenwel P, Inoguchi K, et al. (1995)."Structural and functional analysis of the promoter of the human alpha 1(XI) collagen gene".J. Biol. Chem.270(1): 418–24.doi:10.1074/jbc.270.1.418.PMID7814404.
- Dharmavaram RM, Baldwin CT, Reginato AM, Jimenez SA (1993). "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.doi:10.1016/s0934-8832(11)80071-5.PMID8388073.
- Richards AJ, Yates JR, Williams R, et al. (1997)."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.doi:10.1093/hmg/5.9.1339.PMID8872475.
- Shrivastava A, Radziejewski C, Campbell E, et al. (1998)."An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors".Mol. Cell.1(1): 25–34.doi:10.1016/S1097-2765(00)80004-0.PMID9659900.
- Annunen S, Körkkö J, Czarny M, et al. (2000)."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.doi:10.1086/302585.PMC1288268.PMID10486316.
- Fischer H, Salahshor S, Stenling R, et al. (2002)."COL11A1 in FAP polyps and in sporadic colorectal tumors".BMC Cancer.1:17.doi:10.1186/1471-2407-1-17.PMC59693.PMID11707154.
- Jun AS, Liu SH, Koo EH, et al. (2001)."Microarray analysis of gene expression in human donor corneas".Arch. Ophthalmol.119(11): 1629–34.doi:10.1001/archopht.119.11.1629.PMID11709013.
- Urabe K, Jingushi S, Ikenoue T, et al. (2002)."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.doi:10.1016/S0736-0266(01)00043-2.PMID11780999.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003)."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.Bibcode:2002PNAS...9916899M.doi:10.1073/pnas.242603899.PMC139241.PMID12477932.
- Melkoniemi M, Koillinen H, Männikkö M, et al. (2003)."Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia".Eur. J. Hum. Genet.11(3): 265–70.doi:10.1038/sj.ejhg.5200950.PMID12673280.
- Matsuo N, Yu-Hua W, Sumiyoshi H, et al. (2003)."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.doi:10.1074/jbc.M305599200.PMID12805369.
- Poulson AV, Hooymans JM, Richards AJ, et al. (2004)."Clinical features of type 2 Stickler syndrome".J. Med. Genet.41(8): e107.doi:10.1136/jmg.2004.018382.PMC1735871.PMID15286167.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006)."Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes".Genome Res.16(1): 55–65.doi:10.1101/gr.4039406.PMC1356129.PMID16344560.
- Majava M, Hoornaert KP, Bartholdi D, et al. (2007). "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.doi:10.1002/ajmg.a.31586.PMID17236192.S2CID43244117.