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

Journal Article · Sat Feb 01 04:00:00 EST 1992 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.89.3.910· OSTI ID:5617920

Korge, B P; Gan, Songqing; Steinert, P M ^[1]; McBride, O W ^[2]; Mischke, D ^[3]

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1. National Inst. of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD (United States)
2. National Inst. of Health, Bethesda, MD (United States)
3. The Free Univ. of Berlin (West Germany)

Existing data suggest that the human keratin 10 intermediate filament protein is polymorphic in amino acid sequence and in size. To precisely define the nature of the polymorphism, the authors have used PCR amplification and sequence analyses on DNA from several individuals including five with documented size variations of the keratin 10 protein. They found no variation in the N-terminal or rod domain sequences. However, they observed many variations in the V2 subdomain near the C terminus in glycine-rich sequences with a variation of as much as 114 base pairs (38 amino acids), but all individuals had either one or two variants. The results show that (1) the keratin 10 system is far more polymorphic than previously realized, (2) the polymorphism is restricted to insertions and deletions of the glycine-rich quasipeptide repeats that form the glycine-loop motif in the C-terminal domain, (3) the polymorphism can be accounted for by simple allelic variations that segregate by normal Mendelian mechanisms, and (4) the differently sized PCR products most likely represent different alleles of a single-copy gene per haploid genome.

• OSTI ID: 5617920
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States) Vol. 89:3; ISSN PNASA; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

550201* -- Biochemistry-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
AMINO ACID SEQUENCE
AMINO ACIDS
ANIMALS
CARBOXYLIC ACIDS
DENSITOMETERS
ELECTROPHORESIS
GENE AMPLIFICATION
GENES
GLYCINE
KERATIN
MAMMALS
MAN
MEASURING INSTRUMENTS
MOLECULAR BIOLOGY
MOLECULAR STRUCTURE
ORGANIC ACIDS
ORGANIC COMPOUNDS
PHOTOMETERS
PRIMATES
PROTEINS
SCLEROPROTEINS
VERTEBRATES