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Partial structure and mapping of the human myelin P2 protein gene
V Narayanan1, B Ripepi, E W Jabs
1Department of Pediatrics, Neurology, and Neurobiology, University of Pittsburgh, Pennsylvania.
Abstract:
The myelin P2 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 P2 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 P2 gene to segment q21 on the long arm of chromosome 8. This result identifies the myelin P2 gene as a candidate gene for autosomal recessive Charcot-Marie-Tooth disease type 4A.
Insights
Researchers isolated and characterized the human P2 gene, finding it located on chromosome 8. This myelin P2 gene is a candidate for autosomal recessive Charcot-Marie-Tooth disease type 4A.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- The myelin P2 protein is a fatty acid-binding protein primarily found in peripheral nerves.
- It is expressed in myelin-producing cells (oligodendrocytes and Schwann cells) of the central and peripheral nervous systems.
- Its specific function in myelin and role in nerve disease are not fully understood.
Purpose of the Study:
- To understand the regulation of the myelin P2 gene expression.
- To determine the function of the P2 protein in myelin-producing cells.
- To investigate the role of the P2 gene in peripheral nerve diseases.
Main Methods:
- Isolation and characterization of overlapping human genomic clones encoding the P2 protein.
- Analysis of the partial gene structure and genomic localization.
- Utilizing human-hamster somatic cell hybrids and in situ hybridization for gene mapping.
Main Results:
- The human P2 gene was successfully isolated and characterized.
- The gene's partial structure and genomic location were determined.
- The human P2 gene was mapped to segment q21 on the long arm of chromosome 8.
Conclusions:
- The myelin P2 gene is located on chromosome 8q21.
- This finding identifies the myelin P2 gene as a candidate gene for autosomal recessive Charcot-Marie-Tooth disease type 4A.
- Further research is warranted to elucidate the P2 protein's function and its implications in neurological disorders.