PMID: 7541564Jan 1, 1995Paper

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

Somatic Cell and Molecular Genetics
A BlumenfeldL M Parysek

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 rodent-human mapping panel, we localized the PRPH gene to human chromosome 12. Since a cluster of keratin genes maps to 12q12-13, polymorphic markers were developed for PRPH 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 that KRT18 is tightly linked to DNA markers D12S4, D12S22, D12S90, D12S96 and D12S103, which lie between D12S18 and D12S8, with odds greater than 1000:1. These markers are physically located at 12q11-13, thus supporting the fine localization of KRT18 in or near the group of type II keratins in this region. Furthermore, linkage analy...Continue Reading

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Citations

Mar 1, 1997·Journal of Cutaneous Pathology·V G PrietoJ A Reed
Jul 20, 1999·Dermatologic Clinics·A R Hudson, B R Smoller
May 3, 1996·American Journal of Medical Genetics·T L AllenP F Chance
Jan 1, 1995·Journal of Molecular Neuroscience : MN·P M StrasbergI B Warren

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