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The evolving doublecortin (DCX) superfamily

BACKGROUND: Doublecortin (DCX) domains serve as protein-interaction platforms. Mutations in members of this protein superfamily are linked to several genetic diseases. Mutations in the human DCX gene result in abnormal neuronal migration, epilepsy, and mental retardation; mutations in RP1 are associ...

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Autores principales: Reiner, Orly, Coquelle, Frédéric M, Peter, Bastian, Levy, Talia, Kaplan, Anna, Sapir, Tamar, Orr, Irit, Barkai, Naama, Eichele, Gregor, Bergmann, Sven
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1550402/
https://www.ncbi.nlm.nih.gov/pubmed/16869982
http://dx.doi.org/10.1186/1471-2164-7-188
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author Reiner, Orly
Coquelle, Frédéric M
Peter, Bastian
Levy, Talia
Kaplan, Anna
Sapir, Tamar
Orr, Irit
Barkai, Naama
Eichele, Gregor
Bergmann, Sven
author_facet Reiner, Orly
Coquelle, Frédéric M
Peter, Bastian
Levy, Talia
Kaplan, Anna
Sapir, Tamar
Orr, Irit
Barkai, Naama
Eichele, Gregor
Bergmann, Sven
author_sort Reiner, Orly
collection PubMed
description BACKGROUND: Doublecortin (DCX) domains serve as protein-interaction platforms. Mutations in members of this protein superfamily are linked to several genetic diseases. Mutations in the human DCX gene result in abnormal neuronal migration, epilepsy, and mental retardation; mutations in RP1 are associated with a form of inherited blindness, and DCDC2 has been associated with dyslectic reading disabilities. RESULTS: The DCX-repeat gene family is composed of eleven paralogs in human and in mouse. Its evolution was followed across vertebrates, invertebrates, and was traced to unicellular organisms, thus enabling following evolutionary additions and losses of genes or domains. The N-terminal and C-terminal DCX domains have undergone sub-specialization and divergence. Developmental in situ hybridization data for nine genes was generated. In addition, a novel co-expression analysis for most human and mouse DCX superfamily-genes was performed using high-throughput expression data extracted from Unigene. We performed an in-depth study of a complete gene superfamily using several complimentary methods. CONCLUSION: This study reveals the existence and conservation of multiple members of the DCX superfamily in different species. Sequence analysis combined with expression analysis is likely to be a useful tool to predict correlations between human disease and mouse models. The sub-specialization of some members due to restricted expression patterns and sequence divergence may explain the successful addition of genes to this family throughout evolution.
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spelling pubmed-15504022006-08-18 The evolving doublecortin (DCX) superfamily Reiner, Orly Coquelle, Frédéric M Peter, Bastian Levy, Talia Kaplan, Anna Sapir, Tamar Orr, Irit Barkai, Naama Eichele, Gregor Bergmann, Sven BMC Genomics Research Article BACKGROUND: Doublecortin (DCX) domains serve as protein-interaction platforms. Mutations in members of this protein superfamily are linked to several genetic diseases. Mutations in the human DCX gene result in abnormal neuronal migration, epilepsy, and mental retardation; mutations in RP1 are associated with a form of inherited blindness, and DCDC2 has been associated with dyslectic reading disabilities. RESULTS: The DCX-repeat gene family is composed of eleven paralogs in human and in mouse. Its evolution was followed across vertebrates, invertebrates, and was traced to unicellular organisms, thus enabling following evolutionary additions and losses of genes or domains. The N-terminal and C-terminal DCX domains have undergone sub-specialization and divergence. Developmental in situ hybridization data for nine genes was generated. In addition, a novel co-expression analysis for most human and mouse DCX superfamily-genes was performed using high-throughput expression data extracted from Unigene. We performed an in-depth study of a complete gene superfamily using several complimentary methods. CONCLUSION: This study reveals the existence and conservation of multiple members of the DCX superfamily in different species. Sequence analysis combined with expression analysis is likely to be a useful tool to predict correlations between human disease and mouse models. The sub-specialization of some members due to restricted expression patterns and sequence divergence may explain the successful addition of genes to this family throughout evolution. BioMed Central 2006-07-26 /pmc/articles/PMC1550402/ /pubmed/16869982 http://dx.doi.org/10.1186/1471-2164-7-188 Text en Copyright © 2006 Reiner et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Reiner, Orly
Coquelle, Frédéric M
Peter, Bastian
Levy, Talia
Kaplan, Anna
Sapir, Tamar
Orr, Irit
Barkai, Naama
Eichele, Gregor
Bergmann, Sven
The evolving doublecortin (DCX) superfamily
title The evolving doublecortin (DCX) superfamily
title_full The evolving doublecortin (DCX) superfamily
title_fullStr The evolving doublecortin (DCX) superfamily
title_full_unstemmed The evolving doublecortin (DCX) superfamily
title_short The evolving doublecortin (DCX) superfamily
title_sort evolving doublecortin (dcx) superfamily
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1550402/
https://www.ncbi.nlm.nih.gov/pubmed/16869982
http://dx.doi.org/10.1186/1471-2164-7-188
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