Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10

Science

Volumn 330, Issue 6000, 2010, Pages 94-97

  Choate, Keith A ^a   Lu, Yin ^a   Zhou, Jing ^a   Choi, Murim ^b   Elias, Peter M ^a   Farhi, Anita ^a   Nelson Williams, Carol ^b   Crumrine, Debra ^b   Williams, Mary L ^c   Nopper, Amy J ^d   Bree, Alanna ^a   Milstone, Leonard M ^a   Lifton, Richard P ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CHILDREN S MERCY HOSPITAL   (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOKERATIN 10; GENOMIC DNA; KERATIN; KRT10 PROTEIN, HUMAN; MUTANT PROTEIN;

ALLELE; CANCER; MUTATION; PHENOTYPE; RECOMBINATION; SKIN DISORDER;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 17Q; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOSITY LOSS; HUMAN; MITOTIC RECOMBINATION; NUCLEOLUS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STEM CELL; AMINO ACID SEQUENCE; CHEMISTRY; CHROMOSOME 17; CHROMOSOME MAP; FEMALE; GENETIC RECOMBINATION; GENETIC SELECTION; GENETICS; INTERMEDIATE FILAMENT; MALE; METABOLISM; MITOSIS; MOLECULAR GENETICS; MOSAICISM; PATHOLOGY; SKIN; ULTRASTRUCTURE;

AMINO ACID SEQUENCE; CELL NUCLEOLUS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; FRAMESHIFT MUTATION; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; INTERMEDIATE FILAMENTS; KERATIN-10; KERATINS; LOSS OF HETEROZYGOSITY; MALE; MITOSIS; MOLECULAR SEQUENCE DATA; MOSAICISM; MUTANT PROTEINS; RECOMBINATION, GENETIC; SELECTION, GENETIC; SKIN;

EID: 77957371828     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1192280     Document Type: Article

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35. We thank the patients studied and their families for their invaluable contributions to this study. We thank L. Boyden and S. Baserga for helpful discussions; N. DeSilva, S. Mane, and the Yale Center for Genome Analysis for assistance in development of critical methodologies; and M. Ceneri for the identification of a previously unreported IWC kindred. The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, and the Yale Skin Diseases Research Center provided cell culture support for this work. K.A.C. is supported by a K08 award from NIAMS and a fellowship from the Foundation for Ichthyosis and Related Skin Types. Supported in part by a National Center for Research Resources High-End Instrumentation Grant, the Yale Clinical and Translational Science Award, and the Yale Center for Human Genetics and Genomics. R.P.L. is an investigator of the Howard Hughes Medical Institute.