A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

Molecular Cell

Volumn 8, Issue 2, 2001, Pages 375-381

  Vithana, Eranga N ^a   Abu Safieh, Leen ^a   Allen, Maxine J ^b   Carey, Alisoun ^b   Papaioannou, Myrto ^a   Chakarova, Christina ^a   Al Maghtheh, Mai ^a   Ebenezer, Neil D ^a   Willis, Catherine ^c   Moore, Anthony T ^a,c   Bird, Alan C ^a,c   Hunt, David M ^a   Bhattacharya, Shomi S ^a,d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Oxagen Limited   (United Kingdom)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d 44 207 608 6863 ^*  (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; MESSENGER RNA; PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 19Q; CONTROLLED STUDY; DISEASE ASSOCIATION; EXON; FUNGAL GENETICS; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PHOTORECEPTOR; RETINITIS PIGMENTOSA; RNA SPLICING; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY; YEAST;

SACCHAROMYCES CEREVISIAE;

EID: 17944379537     PISSN: 10972765     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1097-2765(01)00305-7     Document Type: Article

References (33)

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3. Segregation of a PRKCG mutation in two RP11 families
4. The Pfam protein families database
5. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
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7. Organization and expression of eucaryotic split genes coding for proteins
8. Roles of PRP8 protein in the assembly of splicing complexes
9. Splicing of precursors to mRNAs by the spliceosomes
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13. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
14. Nucleolar KKE/D repeat proteins Nop56p and Nop58p interact with Nop1p and are required for ribosome biogenesis
15. Protein complement of rod outer segments of frog retina
16. Retinopathy induced in mice by targeted disruption of the rhodopsin gene
17. Construction of bacterial artificial chromosome libraries using the modified P1 (PAC) system
18. Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression
19. Circadian rhythm and light regulate opsin mRNA in rod photoreceptors
20. The structure and function of proteins involved in mammalian pre-mRNA splicing
21. Morphological, physiological, and biochemical changes in rhodopsin knockout mice
22. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele
23. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
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25. SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins
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27. Physical map of the RP11 locus for autosomal dominant retinitis pigmentosa and investigation of a candidate gene
28. Circadian oscillation of photopigment transcript levels in the mouse retina
29. The PRP31 gene encodes a novel protein required for pre-mRNA splicing in Saccharomyces cerevisiae
30. Prp31p promotes the association of the U4/U6 × U5 tri-snRNP with prespliceosomes to form spliceosomes in Saccharomyces cerevisiae
31. Phosphoglucomutase 1: Complete human and rabbit mRNA sequences and direct mapping of this highly polymorphic marker on human chromosome 1
32. Nop5p is a small nucleolar ribonucleoprotein component required for pre-18S rRNA processing in yeast
33. Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family