Deletion of a splicing enhancer disrupts PLP1/DM20 ratio and myelin stability

Experimental Neurology - Tập 214 - Trang 322-330 - 2008
Erming Wang1, Neviana Dimova1, Karen Sperle2, Zhong Huang3, Leslie Lock4, Mailis C. McCulloch5, Julia M. Edgar5, Grace M. Hobson2, Franca Cambi1
1Department of Neurology, University of Kentucky, Lexington, KY, USA
2Nemours Biomedical Research, Alfred I DuPont Hospital for Children, Wilmington, DE, USA
3Department of Surgery, Jefferson Medical College, Philadelphia, PA, USA
4Sue and Bill Gross Stem Cell Research Center, Department of Biological Chemistry, and Developmental and Cell Biology, Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697
5Institute of Comparative Medicine, University of Glasgow Veterinary School, Glasgow, Scotland, UK

Tài liệu tham khảo

Al-Saktawi, 2003, Genetic background determines phenotypic severity of the Plp rumpshaker mutation, J. Neurosci. Res., 72, 12, 10.1002/jnr.10561 Bonnet-Dupeyron, 2008, PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations, Hum. Mutat., 29, 1028, 10.1002/humu.20758 Cailloux, 2000, Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations, Eur. J. Hum. Genet., 8, 837, 10.1038/sj.ejhg.5200537 Campagnoni, 1988, Cellular and molecular aspects of myelin protein gene expression, Mol. Neurobiol., 2, 41, 10.1007/BF02935632 DeLuca, 2004, Axonal loss in multiple sclerosis: a pathological survey of the corticospinal and sensory tracts, Brain, 127, 1009, 10.1093/brain/awh118 Edgar, 2004, Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia, J. Cell Biol., 166, 121, 10.1083/jcb.200312012 Garbern, 2002 Garbern, 2002, Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation, Brain, 125, 551, 10.1093/brain/awf043 Griffiths, 1998, Current concepts of PLP and its role in the nervous system, Microsc. Res. Tech., 41, 344, 10.1002/(SICI)1097-0029(19980601)41:5<344::AID-JEMT2>3.0.CO;2-Q Griffiths, 1998, Axonal swellings and degeneration in mice lacking the major proteolipid of myelin, Science, 280, 1610, 10.1126/science.280.5369.1610 Gschwind, 1998, Introduction of hereditary disease-associated mutations into the beta-amyloid precursor protein gene of mouse embryonic stem cells: a comparison of homologous recombination methods, Mol. Cell. Biol., 18, 4651, 10.1128/MCB.18.8.4651 Hasty, 1991, Introduction of a subtle mutation into the Hox-2.6 locus in embryonic stem cells, Nature, 350, 243, 10.1038/350243a0 Hasty, 1991, The length of homology required for gene targeting in embryonic stem cells, Mol. Cell. Biol., 11, 5586, 10.1128/MCB.11.11.5586 Hobson, 2002, A PLP splicing abnormality is associated with an unusual presentation of PMD, Ann. Neurol., 52, 477, 10.1002/ana.10320 Hobson, 2006, Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes, Hum. Mutat., 27, 69, 10.1002/humu.20276 Kanfer, 1989, Developmental expression of myelin proteolipid, basic protein, and 2′,3′-cyclic nucleotide 3′-phosphodiesterase transcripts in different rat brain regions, J. Mol. Neurosci., 1, 39, 10.1007/BF02918889 Klugmann, 1997, Assembly of CNS myelin in the absence of proteolipid protein, Neuron, 18, 59, 10.1016/S0896-6273(01)80046-5 LeVine, 1990, Developmental expression of proteolipid protein and DM20 mRNAs and proteins in the rat brain, Dev. Neurosci., 12, 235, 10.1159/000111853 Livak, 2001, Analysis of relative gene expression data using real-time quantitative PCR and the 2(−Delta Delta C(T)) Method, Methods, 25, 402, 10.1006/meth.2001.1262 Luzi, 2001, Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease), Mol. Genet. Metab., 73, 211, 10.1006/mgme.2001.3194 Matlin, 2005, Understanding alternative splicing: towards a cellular code, Nat. Rev., Mol. Cell Biol., 6, 386, 10.1038/nrm1645 McIlwain, 2001, The use of behavioral test batteries: effects of training history, Physiol. Behav., 73, 705, 10.1016/S0031-9384(01)00528-5 Mimault, 1999, Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not, Am. J. Hum. Genet., 65, 360, 10.1086/302483 Moy, 2006, Mouse models of autism spectrum disorders: the challenge for behavioral genetics, Am. J. Med. Genet., C. Semin. Med. Genet., 142, 40, 10.1002/ajmg.c.30081 Moy, 2007, Mouse behavioral tasks relevant to autism: phenotypes of 10 inbred strains, Behav. Brain Res., 176, 4, 10.1016/j.bbr.2006.07.030 Nave, 1987, Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin, Proc. Natl. Acad. Sci. U. S. A., 84, 5665, 10.1073/pnas.84.16.5665 Norton, 1973, Myelination in rat brain: method of myelin isolation, J. Neurochem., 21, 749, 10.1111/j.1471-4159.1973.tb07519.x Papadopoulos, 2006, Axon loss is responsible for chronic neurological deficit following inflammatory demyelination in the rat, Exp. Neurol., 197, 373, 10.1016/j.expneurol.2005.10.033 Rosenbluth, 2006, Subtle myelin defects in PLP-null mice, Glia, 54, 172, 10.1002/glia.20370 Shy, 2003, Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy, Ann. Neurol., 53, 354, 10.1002/ana.10466 Sporkel, 2002, Oligodendrocytes expressing exclusively the DM20 isoform of the proteolipid protein gene: myelination and development, Glia, 37, 19, 10.1002/glia.10014 Stecca, 2000, The evolution of lipophilin genes from invertebrates to tetrapods: DM-20 cannot replace proteolipid protein in CNS myelin, J. Neurosci., 20, 4002, 10.1523/JNEUROSCI.20-11-04002.2000 Timsit, 1992, DM-20 mRNA is expressed during the embryonic development of the nervous system of the mouse, J. Neurochem., 58, 1172, 10.1111/j.1471-4159.1992.tb09378.x Wang, 2006, PLP1 alternative splicing in differentiating oligodendrocytes: characterization of an exonic splicing enhancer, J. Cell. Biochem., 97, 999, 10.1002/jcb.20692 Wang, 2007, PLP/DM20 ratio is regulated by hnRNPH and F and a novel G-rich enhancer in oligodendrocytes, Nucleic Acids Res., 35, 4164, 10.1093/nar/gkm387 Yool, 2001, Myelin proteolipid proteins promote the interaction of oligodendrocytes and axons, J. Neurosci. Res., 63, 151, 10.1002/1097-4547(20010115)63:2<151::AID-JNR1007>3.0.CO;2-Y