Organization of the human keratin type II gene cluster at 12q13.
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, KRT18, is located next to its partner, KRT8, 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.
Yoon
S J
SJ
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461.
LeBlanc-Straceski
J
J
Ward
D
D
Krauter
K
K
Kucherlapati
R
R
D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002881:Chromosomes, Human, Pair 12; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008969:Molecular Sequence Data; D005810:Multigene Family; D017386:Sequence Homology, Amino Acid; D016324:Sequence Tagged Sites
D017931:DNA Primers; D005819:Genetic Markers; D007633:Keratins; D004247:DNA