| Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers. | |
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MedLine Citation:
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PMID: 10597135 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Members of the plakin family of cytolinker proteins integrate filaments into cellular networks and anchor these networks to the plasma membrane. Their importance is supported by the existence of cell and tissue fragility disorders caused by mutations in certain family members. In this study, the human gene encoding desmoplakin (DSP) was characterized and its structure compared with the related family members: plectin, bullous pemphigoid antigen 1 (BPAG1), envoplakin (EVPL) and periplakin (PPL). Sequence analysis of genomic clones was carried out in combination with a PCR-based strategy to define intron-exon borders. DSP was mapped using the GB4 radiation hybrid mapping panel to the interval between markers D6S296 and AFM043 x f2, corresponding to cytogenetic band 6p24. In addition, the murine gene (Dsp) was mapped to mouse chromosome 13 by interspecific backcross mapping. DSP encompasses approximately 45 kb organized into 24 exons and 23 introns, and the pattern of intron-exon borders bears a striking resemblance to other members of the plakin family. Notable features include the fact that a single large exon encodes the entire C-terminus of each gene. In contrast, the N-termini comprise numerous smaller exons with conservation of many intron-exon borders. Detailed characterization and mapping of these genes will facilitate their further evaluation as targets of genetic disorders and provide insights into the evolutionary relationships among molecules in this emerging gene family. |
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Authors:
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K J Green; S G Guy; P B Cserhalmi-Friedman; W H McLean; A M Christiano; R M Wagner |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Experimental dermatology Volume: 8 ISSN: 0906-6705 ISO Abbreviation: Exp. Dermatol. Publication Date: 1999 Dec |
Date Detail:
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Created Date: 2000-01-27 Completed Date: 2000-01-27 Revised Date: 2009-09-29 |
Medline Journal Info:
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Nlm Unique ID: 9301549 Medline TA: Exp Dermatol Country: DENMARK |
Other Details:
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Languages: eng Pagination: 462-70 Citation Subset: IM |
Affiliation:
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Department of Pathology, R. H. Lurie Cancer Center, Northwestern University Medical School, Chicago, IL 60611, USA. kgreen@nwu.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence Animals Base Sequence Chromosome Mapping Conserved Sequence Cytoskeletal Proteins / chemistry, genetics* DNA Primers / genetics Desmoplakins Exons Humans Introns Mice Molecular Sequence Data Mutation Sequence Homology, Amino Acid Skin Diseases, Genetic / genetics Species Specificity |
| Grant Support | |
ID/Acronym/Agency:
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R01 AR43380/AR/NIAMS NIH HHS; R01 AR44924/AR/NIAMS NIH HHS; //Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/Cytoskeletal Proteins; 0/DNA Primers; 0/DSP protein, human; 0/Desmoplakins; 0/Dsp protein, mouse |
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