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Collagen, type IX, alpha 1

COL9A1
This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: IDD, COL2A1, HAD, Comp, matrilin-3
Papers on COL9A1
The pathology of bone tissue during peri-implantitis.
New
Miosge et al., Göttingen, Germany. In J Dent Res, Feb 2015
The levels of typical bone matrix molecules, including SPP1, BGLAP, and COL9A1, in patients with peri-implantitis were reduced, while the inflammation marker interleukin 8 (IL8) was highly expressed.
COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population.
Guo et al., Xi'an, China. In Plos One, 2014
METHODS: Twenty seven single nucleotide polymorphisms (SNPs) in COL9AI, COL9A2 and COL9A3 were genotyped in 274 KBD cases and 248 healthy controls using the Sequenom MassARRAY system.
Transcriptomics of diapause in an isogenic self-fertilizing vertebrate.
Avise et al., Irvine, United States. In Bmc Genomics, 2014
However, some genes (notably dusp27, klhl38 and sqstm1) were significantly up-regulated during diapause, whereas others (col9a1, dspp and fmnl1) were substantially down-regulated, compared to both pre-diapause and post-diapause.
Association of reduced type IX collagen gene expression in human osteoarthritic chondrocytes with epigenetic silencing by DNA hypermethylation.
Oreffo et al., Sendai, Japan. In Arthritis Rheumatol, 2014
OBJECTIVE: To investigate whether the changes in collagen gene expression in osteoarthritic (OA) human chondrocytes are associated with changes in the DNA methylation status in the COL2A1 enhancer and COL9A1 promoter.
Differentiation of stem cells from human infrapatellar fat pad: characterization of cells undergoing chondrogenesis.
Myers et al., Melbourne, Australia. In Tissue Eng Part A, 2014
Normalized microarray highlighted 608 differentially expressed genes; 10 chondrogenic genes were upregulated (2- to 87-fold), including COL2A1, COL10A1, COL9A1, COL11A1, COL9A2, COL11A2, COL1A1, COMP, SOX9, and COL3A1.
Suitability of porcine chondrocyte micromass culture to model osteoarthritis in vitro.
Ringe et al., Berlin, Germany. In Mol Pharm, 2014
Expression of genes related to cartilage ECM formation (COL2A1, COL9A1, COMP, aggrecan) as well as hypertrophic bone formation (COL1A1, COL10A1) was predominantly found decreased.
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
Gasparini et al., Trieste, Italy. In Am J Med Genet A, 2014
The dominant form is caused by mutations of COL2A1 (STL 1, OMIM 108300), COL11A1 (STL 2, OMIM 604841), and COL11A2 (STL 3, OMIM 184840) genes, while recessive forms have been associated with mutations of COL9A1 (OMIM 120210) and COL9A2 (OMIM 120260) genes.
Effects of hypoxia on anabolic and catabolic gene expression and DNA methylation in OA chondrocytes.
Oreffo et al., Southampton, United Kingdom. In Bmc Musculoskelet Disord, 2013
After 5 weeks, levels of Collagen type IX (COL9A1), IL1B, and matrix metalloproteinase-13 (MMP13) gene expression were measured using SYBR Green-based qRT-PCR and were correlated with methylation status analysed by pyrosequencing methodology.
Enhanced tissue regeneration potential of juvenile articular cartilage.
Margerrison et al., Austin, United States. In Am J Sports Med, 2013
The genes mostly involved in cartilage growth and expansion, such as COL2A1, COL9A1, MMP2, MMP14, and TGFB3, were upregulated in juvenile cartilage, whereas the genes primarily responsible for structural integrity, such as COMP, FN1, TIMP2, TIMP3, and BMP2, were upregulated in adult cartilage.
Hearing impairment in Stickler syndrome: a systematic review.
Review
De Leenheer et al., Gent, Belgium. In Orphanet J Rare Dis, 2011
It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance).
Type IX collagen interacts with fibronectin providing an important molecular bridge in articular cartilage.
GeneRIF
Duance et al., York, United Kingdom. In J Biol Chem, 2011
Type IX collagen interacts with fibronectin providing an important molecular bridge in articular cartilage
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
GeneRIF
van den Born et al., Nijmegen, Netherlands. In Invest Ophthalmol Vis Sci, 2011
A second, novel mutation was identified in COL9A1, causing autosomal recessive Stickler syndrome together with the previously described nucleotide change in two separate families.
[Expression of COL9A1 gene and its polymorphism in children with idiopathic congenital talipes equinovarus].
GeneRIF
Lin et al., Shenyang, China. In Zhongguo Dang Dai Er Ke Za Zhi, 2011
COL9A1 protein is highly expressed in patients with idiopathic congenital talipes equinovarus (ICTEV) and rs1135056, which is located in the coding region of COL9A1 gene, may be associated with the pathogenesis of ICTEV.
The NC2 domain of collagen IX provides chain selection and heterotrimerization.
GeneRIF
Bächinger et al., Portland, United States. In J Biol Chem, 2010
NC2 domain of collagen IX provides chain selection and heterotrimerization
Locomotor activity and gait in aged mice deficient for type IX collagen.
GeneRIF
Griffin et al., Durham, United States. In J Appl Physiol, 2010
They test the hypothesis that aged Col9a1(-/-) mice would reduce joint pain by adopting locomotor behaviors that reduce both the magnitude and daily frequency of joint loading.
Multiple Epiphyseal Dysplasia, Autosomal Dominant
Review
Mortier et al., Seattle, United States. In Unknown Journal, 2003
CLINICAL CHARACTERISTICS: Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise.
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Review
Chapman et al., Manchester, United Kingdom. In Hum Mutat, 2002
PSACH is almost exclusively caused by mutations in cartilage oligomeric matrix protein (COMP) whereas various forms of MED are caused by mutations in the genes encoding COMP, type IX collagen (COL9A1, COL9A2, and COL9A3), matrilin-3 (MATN3), and solute carrier member 26, member 2 gene (SLC26A2).
Identification of a novel common genetic risk factor for lumbar disk disease.
Impact
Ala-Kokko et al., Oulu, Finland. In Jama, 2001
MAIN OUTCOME MEASURES: Frequencies of sequence variations covering the entire coding sequences and exon boundaries of the collagen IX genes, COL9A1, COL9A2, and COL9A3, which code for the alpha1, alpha2, and alpha3 chains of the protein, detected by conformation-sensitive gel electrophoresis and confirmed by sequencing, compared between individuals with and without LDD.
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
Review
Hecht et al., Toronto, Canada. In Am J Med Genet, 2000
Mutations causing MED have now been identified in five other genes (COL9A1, COL9A2, COL9A3, DTDST, and MATN3), making MED one of the most genetically heterogeneous disorders.
Stickler Syndrome
Review
Ala-Kokko et al., Seattle, United States. In Unknown Journal, 2000
Pathogenic variants in one of six genes (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3) have been associated with Stickler syndrome; because a few families with features of Stickler syndrome are not linked to any of these six loci, mutation of other genes may also cause the disorder.
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