XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients

Human Mutation

Volumn 31, Issue 2, 2010, Pages 167-175

  Khan, Sikandar G ^a   Yamanegi, Koji ^a,d   Zheng, Zhi Ming ^a   Boyle, Jennifer ^a,e   Imoto, Kyoko ^a,f   Oh, Kyu Seon ^a   Baker, Carl C ^a   Gozukara, Engin ^b,g   Metin, Ahmet ^c,h   Kraemer, Kenneth H ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b INONU UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^c YUZUNCU YIL UNIVERSITY   (Turkey)

^d HYOGO COLLEGE OF MEDICINE   (Japan)

^e NATIONAL INSTITUTE FOR BIOLOGICAL STANDARDS AND CONTROL   (United Kingdom)

^f NARA MEDICAL UNIVERSITY   (Japan)

^g Dr Fethiye Ersan Test Tube Baby and Genetic Diagnosis Center   (Turkey)

^h Ankara Atarürk Research and Education Hospital   (Turkey)

Author keywords

DNA repair; Pre mRNA splicing; Skin cancer; U2 snRNP; Xeroderma pigmentosum; XPC

Indexed keywords

DNA; MESSENGER RNA; OLIGONUCLEOTIDE; RIBONUCLEASE H; SMALL NUCLEAR RIBONUCLEOPROTEIN; XERODERMA PIGMENTOSUM GROUP C PROTEIN;

ARTICLE; CONTROLLED STUDY; DNA DAMAGE; DNA REPAIR; EXCISION REPAIR; GENE DISRUPTION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RNA SPLICING; SURVIVAL; ULTRAVIOLET IRRADIATION; XERODERMA PIGMENTOSUM;

BASE SEQUENCE; CELL LINE; CELL SURVIVAL; DNA; DNA DAMAGE; DNA REPAIR; DNA-BINDING PROTEINS; EXONS; GENOME, HUMAN; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PROTEIN BINDING; PYRIMIDINE DIMERS; RIBONUCLEASE H; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR; RNA PRECURSORS; RNA SPLICING; RNA, MESSENGER; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM;

EID: 75149191448     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21166     Document Type: Article

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