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Title: Organization of the human keratin type II gene cluster at 12q13

Abstract

Keratin proteins constitute intermediate filaments and are the major differentiation products of mammalian epithelial cells. The epithelial keratins are classified into two groups, type I and type II, and one member of each group is expressed in a given epithelial cell differentiation stage. Mutations in type I and type II keratin genes have now been implicated in three different human genetic disorders, epidermolysis bullosa simplex, epidermolytic hyperkeratosis, and epidermolytic palmoplantar keratoderma. Members of the type I keratins are mapped to human chromosome 17, and the type II keratin genes are mapped to chromosome 12. To understand the organization of the type II keratin genes on chromosome 12, we isolated several yeast artificial chromosomes carrying these keratin genes and examined them in detail. We show that eight already known type II keratin genes are located in a cluster at 12q13, and their relative organization reflects their evolutionary relationship. We also determined that a type I keratin gene, KRT8, is located next to its partner, KRT18, in this cluster. Careful examination of the cluster also revealed that there may be a number of additional keratin genes at this locus that have not been described previously. 41 refs., 3 figs., 1 tab.

Authors:
; ;  [1]
  1. Albert Einstein College of Medicine, Bronx, NY (United States); and others
Publication Date:
OSTI Identifier:
241037
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 24; Journal Issue: 3; Other Information: PBD: Dec 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 12; GENETIC MAPPING; GENES; GENE MUTATIONS; BIOLOGICAL EVOLUTION; DNA SEQUENCING; KERATIN; SKIN DISEASES; HUMAN CHROMOSOME 17; POLYMERASE CHAIN REACTION; HEREDITARY DISEASES; YEASTS; PROBES; DNA HYBRIDIZATION; FLUORESCENCE

Citation Formats

Yoon, S J, LeBlanc-Straceski, J, and Krauter, K. Organization of the human keratin type II gene cluster at 12q13. United States: N. p., 1994. Web. doi:10.1006/geno.1994.1659.
Yoon, S J, LeBlanc-Straceski, J, & Krauter, K. Organization of the human keratin type II gene cluster at 12q13. United States. https://doi.org/10.1006/geno.1994.1659
Yoon, S J, LeBlanc-Straceski, J, and Krauter, K. 1994. "Organization of the human keratin type II gene cluster at 12q13". United States. https://doi.org/10.1006/geno.1994.1659.
@article{osti_241037,
title = {Organization of the human keratin type II gene cluster at 12q13},
author = {Yoon, S J and LeBlanc-Straceski, J and Krauter, K},
abstractNote = {Keratin proteins constitute intermediate filaments and are the major differentiation products of mammalian epithelial cells. The epithelial keratins are classified into two groups, type I and type II, and one member of each group is expressed in a given epithelial cell differentiation stage. Mutations in type I and type II keratin genes have now been implicated in three different human genetic disorders, epidermolysis bullosa simplex, epidermolytic hyperkeratosis, and epidermolytic palmoplantar keratoderma. Members of the type I keratins are mapped to human chromosome 17, and the type II keratin genes are mapped to chromosome 12. To understand the organization of the type II keratin genes on chromosome 12, we isolated several yeast artificial chromosomes carrying these keratin genes and examined them in detail. We show that eight already known type II keratin genes are located in a cluster at 12q13, and their relative organization reflects their evolutionary relationship. We also determined that a type I keratin gene, KRT8, is located next to its partner, KRT18, in this cluster. Careful examination of the cluster also revealed that there may be a number of additional keratin genes at this locus that have not been described previously. 41 refs., 3 figs., 1 tab.},
doi = {10.1006/geno.1994.1659},
url = {https://www.osti.gov/biblio/241037}, journal = {Genomics},
number = 3,
volume = 24,
place = {United States},
year = {Thu Dec 01 00:00:00 EST 1994},
month = {Thu Dec 01 00:00:00 EST 1994}
}