CHST14, a protein-coding gene, encodes for the enzyme carbohydrate sulfotransferase 14 (CHST14)/ dermatan 4-O-sulfotransferase (D4ST1).[5]
In humans, CHST14 is positioned on the long arm (q) of chromosome 15 at position 15.1, from base pair 40,470,961 to base pair 40,474,571. The CHST14 gene is 3,611 bases long, composed of 376 amino acids, and has a molecular mass of 42997 Da.[5]
Dermatan 4-O-sulfotransferase enzymatically transfers an active sulfate to position 4 of N-acetyl-D-galactosamine residues of dermatan sulfate, stabilizing this glycosaminoglycan.[10] Dermatan sulfate is essential to extracellular matrix formation and is found in extensively in skin, tendons, cartilage, and the aortic wall.[11]Mutation of CHST14 results in a deficiency of dermatan sulfate, which disrupts glycosaminoglycan constituents in fibroblasts and impairs collagen fibril linkage within collagen bundles.[10]
Clinical significanceedit
Mutation of CHST14 is associated with the Musculocontractural type of Ehlers–Danlos syndromes, recently specified as CHST14/D4ST1 deficiency.[7] Previously, this condition has been independently referred to as adducted thumb-clubfoot syndrome,[12] Ehlers-Danlos syndrome, Kosho type,[10][13] musculocontractural Ehlers-Danlos syndrome,[14] and Ehlers-Danlos type VIB.[15] Currently, 40 patients from 27 families have been diagnosed with this autosomal recessive mutation.[16] CHST14/D4ST1 deficiency is the first identified human disease that directly impacts dermatan sulfate production.[16]" Hallmark features include congenital malformations (extensive craniofacial defects, skin elasticity, joint laxity, multiple contractures) combined with progressive fragility of affected structures, with increased incidence of bruising, recurrent joint dislocations, pneumothorax, spinal degeneration, and other deformities.[7]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000169105 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000074916 – 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.
^ abcEvers MR, Xia G, Kang HG, Schachner M, Baenziger JU (September 2001). "Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase". The Journal of Biological Chemistry. 276 (39): 36344–53. doi:10.1074/jbc.M105848200. PMID 11470797.
^ abcKosho T (February 2016). "CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome". Pediatrics International. 58 (2): 88–99. doi:10.1111/ped.12878. PMID 26646600. S2CID 5289682.
^Bian S, Akyüz N, Bernreuther C, Loers G, Laczynska E, Jakovcevski I, Schachner M (December 2011). "Dermatan sulfotransferase Chst14/D4st1, but not chondroitin sulfotransferase Chst11/C4st1, regulates proliferation and neurogenesis of neural progenitor cells". Journal of Cell Science. 124 (Pt 23): 4051–63. doi:10.1242/jcs.088120. PMID 22159417.
^Akyüz N, Rost S, Mehanna A, Bian S, Loers G, Oezen I, Mishra B, Hoffmann K, Guseva D, Laczynska E, Irintchev A, Jakovcevski I, Schachner M (September 2013). "Dermatan 4-O-sulfotransferase1 ablation accelerates peripheral nerve regeneration". Experimental Neurology. 247: 517–30. doi:10.1016/j.expneurol.2013.01.025. PMID 23360803. S2CID 8093221.
^ abcMiyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, et al. (August 2010). "Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome". Human Mutation. 31 (8): 966–74. doi:10.1002/humu.21300. PMID 20533528. S2CID 46388905.
^Penc SF, Pomahac B, Winkler T, Dorschner RA, Eriksson E, Herndon M, Gallo RL (October 1998). "Dermatan sulfate released after injury is a potent promoter of fibroblast growth factor-2 function". The Journal of Biological Chemistry. 273 (43): 28116–21. doi:10.1074/jbc.273.43.28116. PMID 9774430.
^Dündar M, Müller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR (December 2009). "Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome". American Journal of Human Genetics. 85 (6): 873–82. doi:10.1016/j.ajhg.2009.11.010. PMC2790573. PMID 20004762.
^Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, et al. (June 2010). "A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations". American Journal of Medical Genetics. Part A. 152A (6): 1333–46. doi:10.1002/ajmg.a.33498. PMID 20503305. S2CID 205312940.
^Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Lê T, Van Laer L, De Paepe A (November 2010). "Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene". Human Mutation. 31 (11): 1233–9. doi:10.1002/humu.21355. PMID 20842734. S2CID 39702597.
^Kosho T, Takahashi J, Ohashi H, Nishimura G, Kato H, Fukushima Y (October 2005). "Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls". American Journal of Medical Genetics. Part A. 138A (3): 282–7. doi:10.1002/ajmg.a.30965. PMID 16158441. S2CID 37675709.
^ abMizumoto S, Kosho T, Hatamochi A, Honda T, Yamaguchi T, Okamoto N, Miyake N, Yamada S, Sugahara K (February 2017). "Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency". Clinical Biochemistry. 50 (12): 670–677. doi:10.1016/j.clinbiochem.2017.02.018. hdl:2115/68359. PMID 28238810.
External linksedit
Human CHST14 genome location and CHST14 gene details page in the UCSC Genome Browser.
Further readingedit
Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Research. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
Mikami T, Mizumoto S, Kago N, Kitagawa H, Sugahara K (September 2003). "Specificities of three distinct human chondroitin/dermatan N-acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor: implication of differential roles in dermatan sulfate biosynthesis". The Journal of Biological Chemistry. 278 (38): 36115–27. doi:10.1074/jbc.M306044200. PMID 12847091.
This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by expanding it.
chst14, carbohydrate, sulfotransferase, enzyme, that, humans, encoded, gene, identifiersaliases, atcs, d4st1, edsmc1, hnk1st, carbohydrate, sulfotransferase, 14external, idsomim, 608429, 1919386, homologene, 12443, genecards, gene, location, human, chromosome,. Carbohydrate sulfotransferase 14 is an enzyme that in humans is encoded by the CHST14 gene 5 6 CHST14IdentifiersAliasesCHST14 ATCS D4ST1 EDSMC1 HNK1ST carbohydrate sulfotransferase 14External IDsOMIM 608429 MGI 1919386 HomoloGene 12443 GeneCards CHST14Gene location Human Chr Chromosome 15 human 1 Band15q15 1Start40 470 984 bp 1 End40 473 158 bp 1 Gene location Mouse Chr Chromosome 2 mouse 2 Band2 2 E5Start118 756 977 bp 2 End118 759 066 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed instromal cell of endometriumtibialis anterior muscleascending aortacanal of the cervixplacentapancreatic ductal cellright coronary arteryleft uterine tubeleft coronary arterypopliteal arteryTop expressed incalvariaascending aortainterventricular septumdermissemi lunar valverenal corpuscleaortic valveinternal carotid arteryexternal carotid arterybelly cordMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionphosphate ion binding transferase activity sulfotransferase activity N acetylgalactosamine 4 O sulfotransferase activityCellular componentintegral component of membrane Golgi membrane Golgi apparatus extracellular exosome membraneBiological processdermatan sulfate biosynthetic process carbohydrate biosynthetic process dermatan sulfate proteoglycan metabolic process carbohydrate metabolic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez11318972136EnsemblENSG00000169105ENSMUSG00000074916UniProtQ8NCH0Q80V53RefSeq mRNA NM 130468NM 028117RefSeq protein NP 569735NP 082393Location UCSC Chr 15 40 47 40 47 MbChr 2 118 76 118 76 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Gene 2 Ontology 3 Function 4 Clinical significance 5 References 6 External links 7 Further readingGene editCHST14 a protein coding gene encodes for the enzyme carbohydrate sulfotransferase 14 CHST14 dermatan 4 O sulfotransferase D4ST1 5 In humans CHST14 is positioned on the long arm q of chromosome 15 at position 15 1 from base pair 40 470 961 to base pair 40 474 571 The CHST14 gene is 3 611 bases long composed of 376 amino acids and has a molecular mass of 42997 Da 5 Ontology editCHST14 is implicated in fetal development of connective tissues throughout multiple organ systems 7 It is also implicated in regulation of proliferation and neurogenesis of neural precursor cells 8 It has been linked to inhibition of peripheral nerve regeneration in adults 9 Function editDermatan 4 O sulfotransferase enzymatically transfers an active sulfate to position 4 of N acetyl D galactosamine residues of dermatan sulfate stabilizing this glycosaminoglycan 10 Dermatan sulfate is essential to extracellular matrix formation and is found in extensively in skin tendons cartilage and the aortic wall 11 Mutation of CHST14 results in a deficiency of dermatan sulfate which disrupts glycosaminoglycan constituents in fibroblasts and impairs collagen fibril linkage within collagen bundles 10 Clinical significance editMutation of CHST14 is associated with the Musculocontractural type of Ehlers Danlos syndromes recently specified as CHST14 D4ST1 deficiency 7 Previously this condition has been independently referred to as adducted thumb clubfoot syndrome 12 Ehlers Danlos syndrome Kosho type 10 13 musculocontractural Ehlers Danlos syndrome 14 and Ehlers Danlos type VIB 15 Currently 40 patients from 27 families have been diagnosed with this autosomal recessive mutation 16 CHST14 D4ST1 deficiency is the first identified human disease that directly impacts dermatan sulfate production 16 Hallmark features include congenital malformations extensive craniofacial defects skin elasticity joint laxity multiple contractures combined with progressive fragility of affected structures with increased incidence of bruising recurrent joint dislocations pneumothorax spinal degeneration and other deformities 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000169105 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000074916 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 a b c Evers MR Xia G Kang HG Schachner M Baenziger JU September 2001 Molecular cloning and characterization of a dermatan specific N acetylgalactosamine 4 O sulfotransferase The Journal of Biological Chemistry 276 39 36344 53 doi 10 1074 jbc M105848200 PMID 11470797 Entrez Gene D4ST1 dermatan 4 sulfotransferase 1 a b c Kosho T February 2016 CHST14 D4ST1 deficiency New form of Ehlers Danlos syndrome Pediatrics International 58 2 88 99 doi 10 1111 ped 12878 PMID 26646600 S2CID 5289682 Bian S Akyuz N Bernreuther C Loers G Laczynska E Jakovcevski I Schachner M December 2011 Dermatan sulfotransferase Chst14 D4st1 but not chondroitin sulfotransferase Chst11 C4st1 regulates proliferation and neurogenesis of neural progenitor cells Journal of Cell Science 124 Pt 23 4051 63 doi 10 1242 jcs 088120 PMID 22159417 Akyuz N Rost S Mehanna A Bian S Loers G Oezen I Mishra B Hoffmann K Guseva D Laczynska E Irintchev A Jakovcevski I Schachner M September 2013 Dermatan 4 O sulfotransferase1 ablation accelerates peripheral nerve regeneration Experimental Neurology 247 517 30 doi 10 1016 j expneurol 2013 01 025 PMID 23360803 S2CID 8093221 a b c Miyake N Kosho T Mizumoto S Furuichi T Hatamochi A Nagashima Y et al August 2010 Loss of function mutations of CHST14 in a new type of Ehlers Danlos syndrome Human Mutation 31 8 966 74 doi 10 1002 humu 21300 PMID 20533528 S2CID 46388905 Penc SF Pomahac B Winkler T Dorschner RA Eriksson E Herndon M Gallo RL October 1998 Dermatan sulfate released after injury is a potent promoter of fibroblast growth factor 2 function The Journal of Biological Chemistry 273 43 28116 21 doi 10 1074 jbc 273 43 28116 PMID 9774430 Dundar M Muller T Zhang Q Pan J Steinmann B Vodopiutz J Gruber R Sonoda T Krabichler B Utermann G Baenziger JU Zhang L Janecke AR December 2009 Loss of dermatan 4 sulfotransferase 1 function results in adducted thumb clubfoot syndrome American Journal of Human Genetics 85 6 873 82 doi 10 1016 j ajhg 2009 11 010 PMC 2790573 PMID 20004762 Kosho T Miyake N Hatamochi A Takahashi J Kato H Miyahara T et al June 2010 A new Ehlers Danlos syndrome with craniofacial characteristics multiple congenital contractures progressive joint and skin laxity and multisystem fragility related manifestations American Journal of Medical Genetics Part A 152A 6 1333 46 doi 10 1002 ajmg a 33498 PMID 20503305 S2CID 205312940 Malfait F Syx D Vlummens P Symoens S Nampoothiri S Hermanns Le T Van Laer L De Paepe A November 2010 Musculocontractural Ehlers Danlos Syndrome former EDS type VIB and adducted thumb clubfoot syndrome ATCS represent a single clinical entity caused by mutations in the dermatan 4 sulfotransferase 1 encoding CHST14 gene Human Mutation 31 11 1233 9 doi 10 1002 humu 21355 PMID 20842734 S2CID 39702597 Kosho T Takahashi J Ohashi H Nishimura G Kato H Fukushima Y October 2005 Ehlers Danlos syndrome type VIB with characteristic facies decreased curvatures of the spinal column and joint contractures in two unrelated girls American Journal of Medical Genetics Part A 138A 3 282 7 doi 10 1002 ajmg a 30965 PMID 16158441 S2CID 37675709 a b Mizumoto S Kosho T Hatamochi A Honda T Yamaguchi T Okamoto N Miyake N Yamada S Sugahara K February 2017 Defect in dermatan sulfate in urine of patients with Ehlers Danlos syndrome caused by a CHST14 D4ST1 deficiency Clinical Biochemistry 50 12 670 677 doi 10 1016 j clinbiochem 2017 02 018 hdl 2115 68359 PMID 28238810 External links editHuman CHST14 genome location and CHST14 gene details page in the UCSC Genome Browser Further reading editOtsuki T Ota T Nishikawa T Hayashi K Suzuki Y Yamamoto J Wakamatsu A Kimura K Sakamoto K Hatano N Kawai Y Ishii S Saito K Kojima S Sugiyama T Ono T Okano K Yoshikawa Y Aotsuka S Sasaki N Hattori A Okumura K Nagai K Sugano S Isogai T 2007 Signal sequence and keyword trap in silico for selection of full length human cDNAs encoding secretion or membrane proteins from oligo capped cDNA libraries DNA Research 12 2 117 26 doi 10 1093 dnares 12 2 117 PMID 16303743 Mikami T Mizumoto S Kago N Kitagawa H Sugahara K September 2003 Specificities of three distinct human chondroitin dermatan N acetylgalactosamine 4 O sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor implication of differential roles in dermatan sulfate biosynthesis The Journal of Biological Chemistry 278 38 36115 27 doi 10 1074 jbc M306044200 PMID 12847091 nbsp This article on a gene on human chromosome 15 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title CHST14 amp oldid 1142730973, wikipedia, wiki, book, books, library,
