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Comparative physical maps of the human and mouse Meckel syndrome critical regions

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Abstract

Meckel syndrome (MKS–OMIM 24900) is an autosomal recessive disease characterized by cystic kidneys, occipital encephalocele, polydactyly, and fibrotic changes of the liver, typically resulting in postnatal death. A Meckel syndrome critical region (MKS1) maps to human Chromosome (Chr) 17, in a region of homology to mouse Chr 11. Here we report the comparison of human Chr 17q23 with mouse Chr 11. We have generated physical maps of the human and mouse MKS1 critical regions. Additionally, we have created a transcript map of the MKS1 critical region in both species. By comparing these physical maps, we observe a high degree of similarity in gene order in the human and mouse Meckel syndrome critical regions. We have also examined the expression patterns of genes in the MKS1 region to assess their potential as MKS1 candidates. Finally, we have analyzed genes present in the other Meckel syndrome critical regions, MKS2 and MKS3, to determine whether any of the candidate genes for the three MKS loci have similar gene functions or are members of a common biological pathway.

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Authors and Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA

    Kathryn E. Hentges & Monica J. Justice

  2. Department of Human Genetics, University of California, Los Angeles, California 90095, USA

    Mira Kyttälä & Leena Peltonen

  3. Department of Molecular Medicine, National Public Health Institute and Department of Medical Genetics, University of Helsinki, Biomedicum, Finland

    Mira Kyttälä & Leena Peltonen

Authors
  1. Kathryn E. Hentges
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  2. Mira Kyttälä
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  3. Monica J. Justice
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  4. Leena Peltonen
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Correspondence to Leena Peltonen.

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Hentges, K.E., Kyttälä, M., Justice, M.J. et al. Comparative physical maps of the human and mouse Meckel syndrome critical regions . Mamm Genome 15, 252–264 (2004). https://doi.org/10.1007/s00335-003-2303-y

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  • DOI: https://doi.org/10.1007/s00335-003-2303-y

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