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Partial Structure and Mapping of the Human Myelin P 2 Protein Gene
Author(s) -
Narayanan Vinodh,
Ripepi Benedetta,
Jabs Ethylin Wang,
Hawkins Anita,
Griffin Constance,
Tennekoon Gihan
Publication year - 1994
Publication title -
journal of neurochemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.75
H-Index - 229
eISSN - 1471-4159
pISSN - 0022-3042
DOI - 10.1046/j.1471-4159.1994.63062010.x
Subject(s) - myelin , biology , peripheral nervous system , gene , microbiology and biotechnology , gene expression , gene mapping , chromosome , central nervous system , genetics , endocrinology
The myelin P 2 protein, a 14,800‐Da cytosolic protein found primarily in peripheral nerves, belongs to a family of fatty acid binding proteins. Although it is similar in amino acid sequence and tertiary structure to fatty acid binding proteins found in the liver, adipocytes, and intestine, its expression is limited to the nervous system. It is detected only in myelin‐producing cells of the central and peripheral nervous systems, i.e., the oligodendrocytes and Schwann cells, respectively. As part of a program to understand the regulation of expression of this gene, to determine its function in myelin‐producing cells, and to study its role in peripheral nerve disease, we have isolated and characterized overlapping human genomic clones encoding the P 2 protein. We report here on the partial structure of this gene, and on its localization within the genome. By using a panel of human‐hamster somatic cell hybrids and by in situ hybridization, we have mapped the human P 2 gene to segment q21 on the long arm of chromosome 8. This result identifies the myelin P 2 gene as a candidate gene for autosomal recessive Charcot‐Marie‐Tooth disease type 4A.