Mutations alter secretion of fukutin-related protein

Pei J. Lu1, Allen Zillmer1, XiaoHua Wu1, Hanns Lochmuller2, Judy Vachris3, Derek Blake4, Yiumo Michael Chan1, Qi L. Lu1
1McColl-Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular/ALS Center, Carolinas Medical Center, 1000 Blythe Blvd. Charlotte, NC 28231, USA
2Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
3Molecular Core Laboratory, Carolinas Medical Center, 1000 Blythe Blvd., Charlotte, NC 28231, USA
4Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, CF14 4XN, UK

Tài liệu tham khảo

Yoshida, 2001, Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1, Dev. Cell, 1, 717, 10.1016/S1534-5807(01)00070-3 Blake, 2005, Glycosylation defects and muscular dystrophy, Adv. Exp. Med. Biol., 564, 97, 10.1007/0-387-25515-X_15 Kobayashi, 1998, An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy, Nature, 394, 388, 10.1038/28256 Brockington, 2001, Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C, Hum. Mol. Genet., 10, 2851, 10.1093/hmg/10.25.2851 Brockington, 2001, Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan, Am. J. Hum. Genet., 69, 1198, 10.1086/324412 Beltran-Valero, 2002, Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker–Warburg syndrome, Am. J. Hum. Genet., 71, 1033, 10.1086/342975 van Reeuwijk, 2005, POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker–Warburg syndrome, J. Med. Genet., 42, 907, 10.1136/jmg.2005.031963 Longman, 2003, Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of a-dystroglycan, Hum. Mol. Genet., 12, 2853, 10.1093/hmg/ddg307 Topaloglu, 2003, FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts, Neurology, 60, 988, 10.1212/01.WNL.0000052996.14099.DC Poppe, 2004, Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I, Ann. Neurol, 56, 738, 10.1002/ana.20283 Beltran-Valero de Bernabe, 2004, Mutations in the FKRP gene can cause muscle–eye–brain disease and Walker–Warburg syndrome, J. Med. Genet., 41, e61, 10.1136/jmg.2003.013870 Louhichi, 2004, New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families, Neurogenetics, 5, 27, 10.1007/s10048-003-0165-9 Esapa, 2002, Functional requirements for fukutin-related protein in the Golgi apparatus, Hum. Mol. Genet., 11, 3319, 10.1093/hmg/11.26.3319 Esapa, 2005, Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells, Hum. Mol. Genet., 14, 295, 10.1093/hmg/ddi026 Weinstein, 1987, Primary structure of beta-galactoside alpha 2,6-sialyltransferase. Conversion of membrane-bound enzyme to soluble forms by cleavage of the NH2-terminal signal anchor, J. Biol. Chem., 262, 17735, 10.1016/S0021-9258(18)45441-5 Masri, 1988, Identification of the full-length coding sequence for human galactosyltransferase (beta-N-acetylglucosaminide:beta 1,4-galactosyltransferase), Biochem. Biophys. Res. Commun., 157, 657, 10.1016/S0006-291X(88)80300-0 Homa, 1993, Isolation and expression of a cDNA clone encoding a bovine UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, J. Biol. Chem., 268, 12609, 10.1016/S0021-9258(18)31432-7 Saito, 2002, A secreted type of beta 1,6-N-acetylglucosaminyltransferase V (GnT-V) induces tumor angiogenesis without mediation of glycosylation: a novel function of GnT-V distinct from the original glycosyltransferase activity, J. Biol. Chem., 277, 17002, 10.1074/jbc.M200521200 Keramaris-Vrantsis, 2007, Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo, Muscle Nerve, 36, 455, 10.1002/mus.20833 Martoglio, 1998, Signal sequences: more than just greasy peptides, Trends Cell Biol, 8, 410, 10.1016/S0962-8924(98)01360-9 Ruskowski, 2001, Substrate-specific regulation of the ribosome-translocon junction by N-terminal signal sequences, Proc Natl. Acad. Sci U. S. A, 98, 7823, 10.1073/pnas.141125098 Kutz, 2008, Functional analysis of an ADAMTS10 signal peptide mutation in Weill–Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme, Hum. Mutat., 29, 1425, 10.1002/humu.20797 de Paula, 2003, Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum, Eur. J. Hum. Genet., 11, 923, 10.1038/sj.ejhg.5201066 Torelli, 2005, Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I, Neuromuscul Disord, 15, 836, 10.1016/j.nmd.2005.09.004 Dolatshad, 2005, Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells, Exp. Cell Res., 309, 370, 10.1016/j.yexcr.2005.06.017 Beedle, 2007, Fukutin-related protein associates with the sarcolemmal dystrophin–glycoprotein complex, J. Biol. Chem., 282, 16713, 10.1074/jbc.C700061200