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COL18A1  -  collagen, type XVIII, alpha 1

Homo sapiens

Synonyms: Collagen alpha-1(XVIII) chain, KNO, KNO1, KS
 
 
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Disease relevance of COL18A1

  • A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene [1].
  • Insights into the physiological function of collagen XVIII/endostatin have recently been obtained through the identification of inactivating mutations in the human collagen XVIII/endostatin gene (COL18A1) in patients with Knobloch syndrome, characterized by age-dependent vitreoretinal degeneration and occipital encephalocele [2].
 

High impact information on COL18A1

  • We report here the results of the screening of both the entire coding region and the exon-intron boundaries of the COL18A1 gene (which includes 43 exons), in eight unrelated patients with KS [3].
  • The responsible gene, COL18A1, has been mapped to 21q22.3, and, on the basis of the analysis of one family, we have demonstrated that a mutation affecting only one of the three COL18A1 isoforms causes this phenotype [3].
  • We reconstructed the haplotypes of this family with ten additional markers (five were novel) and narrowed the candidate interval to a region of <245 kb, which contains 24 expressed sequence tags, the KIAA0958 gene and the 5' end of the COL18A1 gene [4].
  • We found that p53 activates the COL18A1 gene encoding the precursor for the antiangiogenic factor endostatin [5].
  • We amplified 305bp of the 3'UT region of COL18A1 from 62 healthy chromosomes from Caucasian individuals [6].
 

Biological context of COL18A1

  • Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin [7].
  • Two COL18A1 mutations were identified in the Hungarian family: a 1-bp insertion causing a frameshift and a premature in-frame stop codon and an amino acid substitution [7].
  • We identified a homozygous mutation at the AG consensus acceptor splice site of COL18A1 intron 1 exclusively among the 12 KS patients, which was not found among 140 control chromosomes [4].
  • This study focused upon characterization of cis-regulatory elements interacting with human COL18A1 promoter 2 and identification of SNPs in this region in different ethnic groups [8].
 

Associations of COL18A1 with chemical compounds

 

Other interactions of COL18A1

  • Mutation analysis excluded COL15A1, a member of the multiplexin collagen subfamily similar to COL18A1, as being responsible for KNO2 [7].
 

Analytical, diagnostic and therapeutic context of COL18A1

References

  1. A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene. Louren??o, G.J., Cardoso-Filho, C., Gon??ales, N.S., Shinzato, J.Y., Zeferino, L.C., Nascimento, H., Costa, F.F., Gurgel, M.S., Lima, C.S. Breast Cancer Res. Treat. (2006) [Pubmed]
  2. Physiological role of collagen XVIII and endostatin. Marneros, A.G., Olsen, B.R. FASEB J. (2005) [Pubmed]
  3. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. Suzuki, O.T., Sertié, A.L., Der Kaloustian, V.M., Kok, F., Carpenter, M., Murray, J., Czeizel, A.E., Kliemann, S.E., Rosemberg, S., Monteiro, M., Olsen, B.R., Passos-Bueno, M.R. Am. J. Hum. Genet. (2002) [Pubmed]
  4. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Sertié, A.L., Sossi, V., Camargo, A.A., Zatz, M., Brahe, C., Passos-Bueno, M.R. Hum. Mol. Genet. (2000) [Pubmed]
  5. A genomic map of p53 binding sites identifies novel p53 targets involved in an apoptotic network. Miled, C., Pontoglio, M., Garbay, S., Yaniv, M., Weitzman, J.B. Cancer Res. (2005) [Pubmed]
  6. A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in brief no. 212. Online. Sertié, A.L., Brahe, C., Passos-Bueno, M.R. Hum. Mutat. (1999) [Pubmed]
  7. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Menzel, O., Bekkeheien, R.C., Reymond, A., Fukai, N., Boye, E., Kosztolanyi, G., Aftimos, S., Deutsch, S., Scott, H.S., Olsen, B.R., Antonarakis, S.E., Guipponi, M. Hum. Mutat. (2004) [Pubmed]
  8. Characterization of human collagen XVIII promoter 2: interaction of Sp1, Sp3 and YY1 with the regulatory region and a SNP that increases transcription in hepatocytes. Armelin-Correa, L.M., Lin, C.J., Barbosa, A., Bagatini, K., Winnischofer, S.M., Sogayar, M.C., Passos-Bueno, M.R. Matrix Biol. (2005) [Pubmed]
  9. Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. Duh, E.J., Yao, Y.G., Dagli, M., Goldberg, M.F. Ophthalmology (2004) [Pubmed]
  10. Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21. Oh, S.P., Warman, M.L., Seldin, M.F., Cheng, S.D., Knoll, J.H., Timmons, S., Olsen, B.R. Genomics (1994) [Pubmed]
 
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