title: Chromosomal mapping of the human M6 genes.
abstract: M6 is a neuronal membrane glycoprotein that may have an important role in neural development. This molecule was initially defined by a monoclonal antibody that affected the survival of cultured cerebellar neurons and the outgrowth of neurites. The nature of the antigen was discovered by expression cDNA cloning using this monoclonal antibody. Two distinct murine M6 cDNAs (designated M6a and M6b) whose deduced amino acid sequences were remarkably similar to that of the myelin proteolipid protein were previously isolated. We have isolated partial human cDNA and genomic clones encoding M6a and M6b and have characterized them by restriction mapping, Southern hybridization with cDNA probes, and sequence analysis. We have localized these genes within the human genome by FISH (fluorescence in situ hybridization). The human M6a gene is located at 4q34, and the M6b gene is located at Xp22.2. A number of human neurological disorders have been mapped to the Xp22 region, including Aicardi syndrome (MIM 304050), Rett syndrome (MIM 312750), X-linked Charcot-Marie-Tooth neuropathy (MIM 302801), and X-linked mental retardation syndromes (MRX1, MIM 309530). This raises the possibility that a defect in the M6b gene is responsible for one of these neurological disorders.
authors.affiliation: The Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, Pennsylvania, 15213, USA.
authors.forename: S
authors.initials: S
authors.lastname: Olinsky
authors.forename: B T
authors.initials: BT
authors.lastname: Loop
authors.forename: A
authors.initials: A
authors.lastname: DeKosky
authors.forename: B
authors.initials: B
authors.lastname: Ripepi
authors.forename: W
authors.initials: W
authors.lastname: Weng
authors.forename: J
authors.initials: J
authors.lastname: Cummins
authors.forename: S L
authors.initials: SL
authors.lastname: Wenger
authors.forename: Y
authors.initials: Y
authors.lastname: Yan
authors.forename: C
authors.initials: C
authors.lastname: Lagenaur
authors.forename: V
authors.initials: V
authors.lastname: Narayanan
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D000911:Antibodies, Monoclonal; D005075:Biological Evolution; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D003001:Cloning, Molecular; D018076:DNA, Complementary; D015698:Genomic Library; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008562:Membrane Glycoproteins / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics; D009474:Neurons / Q000502:physiology*; D015183:Restriction Mapping; D017386:Sequence Homology, Amino Acid; D014960:X Chromosome
chemical_list: D000911:Antibodies, Monoclonal; D018076:DNA, Complementary; C484158:GPM6A protein, human; C484160:GPM6B protein, human; C083480:Gpm6a protein, mouse; C083481:Gpm6b protein, mouse; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins