The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation (original) (raw)
References
Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2001) GRR: graphical representation of relationship errors. Bioinformatics 17:742–743 ArticleCASPubMed Google Scholar
Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nurnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nurnberg P, Sugahara K, Mundlos S, Hoffmann K (2011) Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet 89:15–27 ArticleCASPubMed CentralPubMed Google Scholar
Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nurnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nurnberg P, Sugahara K, Mundlos S, Hoffmann K (2012) Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet 89:15–27 Article Google Scholar
Bui C, Talhaoui I, Chabel M, Mulliert G, Coughtrie MW, Ouzzine M, Fournel-Gigleux S (2010) Molecular characterization of beta1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers–Danlos syndrome (EDS). FEBS Lett 584:3962–3968 ArticleCASPubMed Google Scholar
Bulow HE, Hobert O (2006) The molecular diversity of glycosaminoglycans shapes animal development. Annu Rev Cell Dev Biol 22:375–407 ArticleCASPubMed Google Scholar
Carrino DA, Sorrell JM, Caplan AI (2000) Age-related changes in the proteoglycans of human skin. Arch Biochem Biophys 373:91–101 ArticleCASPubMed Google Scholar
Condac E, Silasi-Mansat R, Kosanke S, Schoeb T, Towner R, Lupu F, Cummings RD, Hinsdale ME (2007) Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis. Proc Natl Acad Sci USA 104:9416–9421 ArticleCASPubMed Google Scholar
Condac E, Dale GL, Bender-Neal D, Ferencz B, Towner R, Hinsdale ME (2009) Xylosyltransferase II is a significant contributor of circulating xylosyltransferase levels and platelets constitute an important source of xylosyltransferase in serum. Glycobiology 19:829–833 ArticleCASPubMed Google Scholar
Eames BF, Yan YL, Swartz ME, Levic DS, Knapik EW, Postlethwait JH, Kimmel CB (2011) Mutations in fam20b and xylt1 reveal that cartilage matrix controls timing of endochondral ossification by inhibiting chondrocyte maturation. PLoS Genet 7:e1002246 ArticleCASPubMed CentralPubMed Google Scholar
Esko JD, Zhang L (1996) Influence of core protein sequence on glycosaminoglycan assembly. Curr Opin Struct Biol 6:663–670 ArticleCASPubMed Google Scholar
Furukawa K, Okajima T (2002) Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers–Danlos syndrome: molecular cloning and identification of mutations. Biochim Biophys Acta 1573:377–381 ArticleCASPubMed Google Scholar
Gotting C, Kuhn J, Brinkmann T, Kleesiek K (1998) Xylosylation of alternatively spliced isoforms of Alzheimer APP by xylosyltransferase. J Protein Chem 17:295–302 ArticleCASPubMed Google Scholar
Gotting C, Kuhn J, Zahn R, Brinkmann T, Kleesiek K (2000) Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II. J Mol Biol 304:517–528 ArticleCASPubMed Google Scholar
Gotting C, Kuhn J, Tinneberg HR, Brinkmann T, Kleesiek K (2002) High xylosyltransferase activities in human follicular fluid and cultured granulosa-lutein cells. Mol Hum Reprod 8:1079–1086 ArticlePubMed Google Scholar
Gotting C, Kuhn J, Kleesiek K (2007) Human xylosyltransferases in health and disease. Cell Mol Life Sci 64:1498–1517 ArticleCASPubMed Google Scholar
Gudbjartsson DF, Jonasson K, Frigge ML, Kong A (2000) Allegro, a new computer program for multipoint linkage analysis. Nat Genet 25:12–13 ArticleCASPubMed Google Scholar
Hurtado A, Podinin H, Oudega M, Grimpe B (2008) Deoxyribozyme-mediated knockdown of xylosyltransferase-1 mRNA promotes axon growth in the adult rat spinal cord. Brain 131:2596–2605 ArticlePubMed Google Scholar
Kalkan Ucar S, Ozbaran B, Demiral N, Yuncu Z, Erermis S, Coker M (2010) Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status. Brain Dev 32(2):156–161 ArticlePubMed Google Scholar
Kleesiek K, Reinards R, Okusi J, Wolf B, Greiling H (1987) UDP-d-xylose: core protein b-d-xylosyltransferase: a new marker of cartilage destruction in chronic joint diseases. J Clin Chem Clin Biochem 25:473–481 CASPubMed Google Scholar
Komosinska-Vassev KB, Winsz-Szczotka K, Kuznik-Trocha K, Olczyk P, Olczyk K (2008) Age-related changes of plasma glycosaminoglycans. Clin Chem Lab Med 46:219–224 ArticleCASPubMed Google Scholar
Kuhn J, Prante C, Schon S, Gotting C, Kleesiek K (2006) Measurement of fibrosis marker xylosyltransferase I activity by HPLC electrospray ionization tandem mass spectrometry. Clin Chem 52:2243–2249 ArticleCASPubMed Google Scholar
Li H, Durbin R (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26:589–595 ArticlePubMed Google Scholar
Malfait F, Kariminejad A, Van Damme T, Gauche C, Syx D, Merhi-Soussi F, Gulberti S, Symoens S, Vanhauwaert S, Willaert A, Bozorgmehr B, Kariminejad MH, Ebrahimiadib N, Hausser I, Huysseune A, Fournel-Gigleux S, De Paepe A (2013) Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers–Danlos syndrome-like connective tissue disorder. Am J Hum Genet. doi:10.1016/jajhg201304016 PubMed CentralPubMed Google Scholar
Muller B, Prante C, Gastens M, Kuhn J, Kleesiek K, Gotting C (2008) Increased levels of xylosyltransferase I correlate with the mineralization of the extracellular matrix during osteogenic differentiation of mesenchymal stem cells. Matrix Biol 27:139–149 ArticlePubMed Google Scholar
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S (2013) Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet. doi:10.1016/jajhg201304003 PubMed CentralPubMed Google Scholar
O’Connell JR, Weeks DE (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259–266 ArticlePubMed CentralPubMed Google Scholar
Okajima T, Fukumoto S, Furukawa K, Urano T (1999) Molecular basis for the progeroid variant of Ehlers–Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. J Biol Chem 274:28841–28844 ArticleCASPubMed Google Scholar
Orlando C, Ster J, Gerber U, Fawcett JW, Raineteau O (2012) Perisynaptic chondroitin sulfate proteoglycans restrict structural plasticity in an integrin-dependent manner. J Neurosci 32:18009–18017 ArticleCASPubMed Google Scholar
Prante C, Bieback K, Funke C, Schon S, Kern S, Kuhn J, Gastens M, Kleesiek K, Gotting C (2006) The formation of extracellular matrix during chondrogenic differentiation of mesenchymal stem cells correlates with increased levels of xylosyltransferase I. Stem Cells 24:2252–2261 ArticleCASPubMed Google Scholar
Prante C, Kuhn J, Kleesiek K, Gotting C (2009) High xylosyltransferase activity in children and during mineralization of osteoblast-like SAOS-2 cells. Glycoconj J 26:219–227 ArticleCASPubMed Google Scholar
Quentin E, Gladen A, Roden L, Kresse H (1990) A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. Proc Natl Acad Sci USA 87:1342–1346 ArticleCASPubMed Google Scholar
Rahuel-Clermont S, Daligault F, Piet MH, Gulberti S, Netter P, Branlant G, Magdalou J, Lattard V (2010) Biochemical and thermodynamic characterization of mutated beta1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers–Danlos syndrome. Biochem J 432:303–311 ArticleCASPubMed Google Scholar
Roch C, Kuhn J, Kleesiek K, Gotting C (2010) Differences in gene expression of human xylosyltransferases and determination of acceptor specificities for various proteoglycans. Biochem Biophys Res Commun 391:685–691 ArticleCASPubMed Google Scholar
Ruschendorf F, Nurnberg P (2005) ALOHOMORA: a tool for linkage analysis using 10 K SNP array data. Bioinformatics 21:2123–2125 ArticlePubMed Google Scholar
Sandbrink R, Monning U, Masters CL, Beyreuther K (1997) Expression of the APP gene family in brain cells, brain development and aging. Gerontology 43:119–131 ArticleCASPubMed Google Scholar
Savasir I, Sezgin N, Erol N (1989) Ankara Gelisim Tarama Envanteri (AGTE) El Kitabi, 2nd edn. Reklamay Lim. Şti, Ankara, pp 1–29 (in Turkish) Google Scholar
Schon S, Prante C, Bahr C, Kuhn J, Kleesiek K, Gotting C (2006) Cloning and recombinant expression of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II. J Biol Chem 281:14224–14231 ArticlePubMed Google Scholar
Schwartz N (2000) Biosynthesis and regulation of expression of proteoglycans. Front Biosci 5:D649–D655 CASPubMed Google Scholar
Scott PG, McEwan PA, Dodd CM, Bergmann EM, Bishop PN, Bella J (2004) Crystal structure of the dimeric protein core of decorin, the archetypal small leucine-rich repeat proteoglycan. Proc Natl Acad Sci USA 101(44):15633–15638 ArticleCASPubMed Google Scholar
Stoolmiller AC, Horwitz AL, Dorfman A (1972) Biosynthesis of the chondroitin sulfate proteoglycan. Purification and properties of xylosyltransferase. J Biol Chem 247:3525–3532 CASPubMed Google Scholar
Weilke C, Brinkmann T, Kleesiek K (1997) Determination of xylosyltransferase activity in serum with recombinant human bikunin as acceptor. Clin Chem 43:45–51 CASPubMed Google Scholar