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Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24).
- Source :
-
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 1996 Apr 30; Vol. 93 (9), pp. 4278-83. - Publication Year :
- 1996
-
Abstract
- Plectin, a 500-kDa intermediate filament binding protein, has been proposed to provide mechanical strength to cells and tissues by acting as a cross-linking element of the cytoskeleton. To set the basis for future studies on gene regulation, tissue-specific expression, and pathological conditions involving this protein, we have cloned the human plectin gene, determined its coding sequence, and established its genomic organization. The coding sequence contains 32 exons that extend over 32 kb of the human genome. Most of the introns reside within a region encoding the globular N-terminal domain of the molecule, whereas the entire central rod domain and the entire C-terminal globular domain were found to be encoded by single exons of remarkable length, >3 kb and >6 kb, respectively. Overall, the organization of the human plectin gene was strikingly similar to that of human bullous pemphigoid antigen 1 (BPAG1), confirming that both proteins belong to the same gene family. Comparison of the deduced protein sequences for human and rat plectin revealed that they were 93% identical. By using fluorescence in situ hybridization, we have mapped the plectin gene to the long arm of chromosome 8 within the telomeric region. This gene locus (8q24) has previously been implicated in the human blistering skin disease epidermolysis bullosa simplex Ogna. Detailed knowledge of the structure of the plectin gene and its chromosome localization will aid in the elucidation of whether this or any other pathological conditions are linked to alterations in the plectin gene.
- Subjects :
- Amino Acid Sequence
Animals
Base Sequence
Cell Line
Chromosome Mapping
Exons
Genetic Markers
Genome, Human
Humans
In Situ Hybridization, Fluorescence
Intermediate Filament Proteins biosynthesis
Introns
Lymphocytes
Metaphase
Molecular Sequence Data
Molecular Weight
Plectin
Rats
Sequence Homology, Amino Acid
Chromosomes, Human, Pair 8
Intermediate Filament Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0027-8424
- Volume :
- 93
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Proceedings of the National Academy of Sciences of the United States of America
- Publication Type :
- Academic Journal
- Accession number :
- 8633055
- Full Text :
- https://doi.org/10.1073/pnas.93.9.4278