Human plectin: Organization of the gene, sequence analysis, and chromosome localization (8q24)

Chang Gong Liu, Christian Maercker, Maria J. Castañon, Rudolf Hauptmann, Gerhard Wiche

Research output: Contribution to journalArticle

108 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)4278-4283
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume93
Issue number9
DOIs
StatePublished - Apr 30 1996

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Plectin
Sequence Analysis
Chromosomes
Genes
Exons
Intermediate Filament Proteins
Chromosomes, Human, Pair 8
Human Genome
Cytoskeleton
Fluorescence In Situ Hybridization
Skin Diseases
Introns
Carrier Proteins
Proteins

ASJC Scopus subject areas

  • General

Cite this

Human plectin : Organization of the gene, sequence analysis, and chromosome localization (8q24). / Liu, Chang Gong; Maercker, Christian; Castañon, Maria J.; Hauptmann, Rudolf; Wiche, Gerhard.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 93, No. 9, 30.04.1996, p. 4278-4283.

Research output: Contribution to journalArticle

Liu, Chang Gong ; Maercker, Christian ; Castañon, Maria J. ; Hauptmann, Rudolf ; Wiche, Gerhard. / Human plectin : Organization of the gene, sequence analysis, and chromosome localization (8q24). In: Proceedings of the National Academy of Sciences of the United States of America. 1996 ; Vol. 93, No. 9. pp. 4278-4283.
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