Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa

American Journal of Ophthalmology

Volumn 140, Issue 3, 2005, Pages 537-540

  Sato, Hajime ^a   Wada, Yuko ^a   Itabashi, Toshitaka ^a   Nakamura, Makoto ^b   Kawamura, Miyuki ^a   Tamai, Makoto ^a  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; DISEASE ASSOCIATION; DNA DETERMINATION; DNA SEQUENCE; FAMILY; FEMALE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; OPHTHALMOLOGY; PATIENT; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RNA SPLICING; SYMPTOM;

AGED; AGED, 80 AND OVER; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENES, DOMINANT; HUMANS; JAPAN; MALE; MUTATION; PEDIGREE; RETINITIS PIGMENTOSA; RNA PRECURSORS; RNA SPLICING;

EID: 24044481705     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2005.02.050     Document Type: Article

References (7)

1. E.N. Vithana, L. Abu-Safieh, M.J. Allen A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11) Mol Cell 8 2001 375 381
2. O.V. Makarova, E.M. Makarova, S. Liu, H.P. Vornlocher, R. Luhrmann Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6+U5 tri-snRNP formation and pre-mRNA splicing EMBO J 21 2002 1148 1157
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4. Y. Wada, T. Abe, T. Takeshita, H. Sato, K. Yanashima, M. Tamai Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa Invest Ophthalmol Vis Sci 42 2001 2395 2400
5. Y. Wada, T. Itabashi, H. Sato, M. Tamai Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene Graefes Arch Clin Exp Ophthalmol 242 2004 956 961
6. E.N. Vithana, L. Abu-Safieh, L. Pelosini Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa a molecular clue for incomplete penetrance? Invest Ophthalmol Vis Sci 44 2003 4204 4209
7. L. Wang, M. Ribaudo, K. Zhao Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family Am J Med Genet 121 2003 235 239