Chromosomal mapping of the human M6 genes

Journal Article · Wed May 01 00:00:00 EDT 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0231· OSTI ID:466672

Olinsky, S; Loop, B T; DeKosky, A ^[1]

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1. Univ. of Pittsburgh, PA (United States); and others

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 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. 8 refs., 3 figs.

• OSTI ID: 466672
• Journal Information: Genomics, Vol. 33, Issue 3; Other Information: PBD: 1 May 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOMES
GENETIC MAPPING
HUMAN X CHROMOSOME
GLYCOPROTEINS
DNA-CLONING
DNA SEQUENCING
GENE REGULATION
GENE MUTATIONS
MAN
NERVOUS SYSTEM DISEASES
HEREDITARY DISEASES
CENTRAL NERVOUS SYSTEM
ONTOGENESIS
DNA HYBRIDIZATION
FLUORESCENCE
IN-SITU HYBRIDIZATION
ANTIGENS
AMINO ACID SEQUENCE
ANTIBODIES