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Peripherin gene is linked to keratin 18 gene on human chromosome 12

  • Brief Communication
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Somatic Cell and Molecular Genetics

Abstract

Peripherin is a neuron-specific intermediate filament (IF) protein, found primarily in phylogenetically old regions of the nervous system. Whereas other neuronal IF genes have only two to three introns and are scattered in the genome, the peripherin gene (PRPH) has a complex intron-exon structure like nonneuronal IF genes that are clustered in tandem arrays, e.g., those encoding the keratins. We used a cosmid containing the human peripherin gene (PRPH) to determine its chromosomal location in relationship to nonneuronal IF genes. Using a rodenthuman mapping panel, we localized thePRPH gene to human chromosome 12. Since a cluster of keratin genes maps to 12q12–13, polymorphic markers were developed forPRPH and for one of the keratin genes presumed to be in the cluster, keratin 18 (KRT18). Both markers were typed in CEPH reference families. Pairwise and multipoint analyses of the CEPH data revealed thatKRT17 is tightly linked to DNA markersD12S4, D12S22, D12S90, D12S96 andD12S103, which lie betweenD12S18 andD12S8, with odds greater than 1000∶1. These markers are physically located at 12q11–13, thus supporting the fine localization ofKRT18 in or near the group of type II keratins in this region. Furthermore, linkage analysis showed that the peripherin gene (PRPH) is tightly linked toKRT18 (Ž=15.73, θ=0.013), and therefore appears to be in close proximity to the cluster.

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Author notes

  1. Anat Blumenfeld

    Present address: Molecular Biology Unit, Hadassah University Hospital, Mount Scopus, 91240, Jerusalem, Israel

Authors and Affiliations

  1. Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Boston, Massachusetts

    Anat Blumenfeld, Diane E. Lucente, James A. Trofatter, Terry Lerner, Susan A. Slaugenhaupt, Christopher B. Liebert, Marianne Monahan, Jonathan L. Haines, James F. Gusella & Xandra O. Breakefield

  2. Department of Neurology, Harvard Medical School, 02115, Boston, Massachusetts

    Anat Blumenfeld, James A. Trofatter, Terry Lerner, Susan A. Slaugenhaupt, Jonathan L. Haines & Xandra O. Breakefield

  3. Department of Genetics, Harvard Medical School, 02115, Boston, Massachusetts

    James F. Gusella

  4. Program in Neuroscience, Harvard Medical School, 02115, Boston, Massachusetts

    Xandra O. Breakefield

  5. Department of Anatomy and Cell Biology, University of Cincinnati, 231 Bethesda Avenue, 45267-0521, Cincinnan, Ohio

    Linda M. Parysek

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  1. Anat Blumenfeld
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  2. Diane E. Lucente
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Blumenfeld, A., Lucente, D.E., Trofatter, J.A. et al. Peripherin gene is linked to keratin 18 gene on human chromosome 12. Somat Cell Mol Genet 21, 83–88 (1995). https://doi.org/10.1007/BF02255825

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  • DOI: https://doi.org/10.1007/BF02255825

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