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Literature DB >> 1689954

Allele frequencies and segregation of human polymorphic keratins K4 and K5.

Abstract

Two electrophoretic variants for each of the human keratins K4 and K5 that are expressed in squamous nonkeratinizing epithelia lining the upper digestive tract could be distinguished on SDS-PAGE. Based on a sampling size of 1,299 unrelated individuals, calculation of allele frequencies showed the alleles to be in Hardy-Weinberg equilibrium. The genetic basis of this variation was confirmed by both quantitative gene dosage dependence and the transmission of the variants as Mendelian traits in two families. Thus the human keratin genes K4 and K5 are polymorphic, and each presents with two codominant alleles (a and b).

Entities: Chemical Gene Species

Mesh：

Substances：
Keratins

Year: 1990 PMID： 1689954 PMCID： PMC1683635

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

20 in total

1. Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops.

Authors: B P Korge; S Q Gan; O W McBride; D Mischke; P M Steinert
Journal: Proc Natl Acad Sci U S A Date: 1992-02-01 Impact factor: 11.205

1 in total

Allele frequencies and segregation of human polymorphic keratins K4 and K5.

1. Concerted gene duplications in the two keratin gene families.

2. A group of type I keratin genes on human chromosome 17: characterization and expression.

Review 3. Keratins as biochemical markers of epithelial differentiation.

4. Chromosomal assignments of human type I and type II cytokeratin genes to different chromosomes.

Review 5. Patterns of keratin expression define distinct pathways of epithelial development and differentiation.

6. Chromosomal mapping of human keratin genes: evidence of non-linkage.

7. Nuclear lamins and cytoplasmic intermediate filament proteins: a growing multigene family.

8. Cleavage of structural proteins during the assembly of the head of bacteriophage T4.

9. Two type II keratin genes are localized on human chromosome 12.

10. Polymorphic keratins in human epidermis.

1. Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops.