Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

American Journal of Human Genetics

Volumn 84, Issue 6, 2009, Pages 792-800

  Friedman, James S ^a   Ray, Joseph W ^b   Waseem, Naushin ^c   Johnson, Kory ^d   Brooks, Matthew J ^a   Hugosson, Therése ^e   Breuer, Debra ^f   Branham, Kari E ^f   Krauth, Daniel S ^a   Bowne, Sara J ^b   Sullivan, Lori S ^b   Ponjavic, Vesna ^e   Gränse, Lotta ^e   Khanna, Ritu ^f   Trager, Edward H ^f   Gieser, Linn M ^a   Hughbanks Wheaton, Dianna ^g   Cojocaru, Radu I ^a   Ghiasvand, Noor M ^f   Chakarova, Christina F ^c   Abrahamson, Magnus ^h   Göring, Harald H H ⁱ   Webster, Andrew R ^c   Birch, David G ^g   Abecasis, Goncalo R ^f   Fann, Yang ^d   Bhattacharya, Shomi S ^c   Daiger, Stephen P ^b   Heckenlively, John R ^f   Andréasson, Sten ^e   Swaroop, Anand ^a,f,j   more..

^a NATIONAL EYE INSTITUTE   (United States)

^b UNIVERSITY OF TEXAS   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^e LUND UNIVERSITY HOSPITAL   (Sweden)

^f UNIVERSITY OF MICHIGAN   (United States)

^g RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^h LUND UNIVERSITY   (Sweden)

ⁱ SOUTHWEST FOUNDATION FOR BIOMEDICAL RESEARCH   (United States)

^j UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 7P; CONTROLLED STUDY; GENE; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HUMAN; KLHL7 GENE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN STRUCTURE; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM; UBIQUITINATION;

AMINO ACID SEQUENCE; AUTOANTIGENS; CHROMOSOMES, HUMAN, PAIR 7; ENZYME-LINKED IMMUNOSORBENT ASSAY; GENE EXPRESSION PROFILING; GENES, DOMINANT; HUMANS; IMMUNOBLOTTING; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 66449117927     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.05.007     Document Type: Article

References (45)

1. Hartong D.T., Berson E.L., and Dryja T.P. Retinitis pigmentosa. Lancet 368 (2006) 1795-1809
2. Daiger S.P., Bowne S.J., and Sullivan L.S. Perspective on genes and mutations causing retinitis pigmentosa. Arch. Ophthalmol. 125 (2007) 151-158
3. Sullivan L.S., Bowne S.J., Birch D.G., Hughbanks-Wheaton D., Heckenlively J.R., Lewis R.A., Garcia C.A., Ruiz R.S., Blanton S.H., Northrup H., et al. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: A screen of known genes in 200 families. Invest. Ophthalmol. Vis. Sci. 47 (2006) 3052-3064
4. Sancho-Pelluz J., Arango-Gonzalez B., Kustermann S., Romero F.J., van Veen T., Zrenner E., Ekstrom P., and Paquet-Durand F. Photoreceptor cell death mechanisms in inherited retinal degeneration. Mol. Neurobiol. 38 (2008) 253-269
5. Ruschendorf F., and Nurnberg P. ALOHOMORA: A tool for linkage analysis using 10K SNP array data. Bioinformatics 21 (2005) 2123-2125
6. Abecasis G.R., Cherny S.S., Cookson W.O., and Cardon L.R. GRR: Graphical representation of relationship errors. Bioinformatics 17 (2001) 742-743
7. Wigginton J.E., and Abecasis G.R. PEDSTATS: Descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 21 (2005) 3445-3447
8. Mukhopadhyay N., Almasy L., Schroeder M., Mulvihill W.P., and Weeks D.E. Mega2: Data-handling for facilitating genetic linkage and association analyses. Bioinformatics 21 (2005) 2556-2557
9. Abecasis G.R., Cherny S.S., Cookson W.O., and Cardon L.R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 30 (2002) 97-101
10. Friedman J.S., Chang B., Kannabiran C., Chakarova C., Singh H.P., Jalali S., Hawes N.L., Branham K., Othman M., Filippova E., et al. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am. J. Hum. Genet. 79 (2006) 1059-1070
11. Akimoto M., Cheng H., Zhu D., Brzezinski J.A., Khanna R., Filippova E., Oh E.C., Jing Y., Linares J.L., Brooks M., et al. Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors. Proc. Natl. Acad. Sci. USA 103 (2006) 3890-3895
12. Guex N., and Peitsch M.C. SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling. Electrophoresis 18 (1997) 2714-2723
13. Schwede T., Kopp J., Guex N., and Peitsch M.C. SWISS-MODEL: An automated protein homology-modeling server. Nucleic Acids Res. 31 (2003) 3381-3385
14. Kopp J., and Schwede T. The SWISS-MODEL Repository of annotated three-dimensional protein structure homology models. Nucleic Acids Res. 32 (2004) D230-D234
15. Arnold K., Bordoli L., Kopp J., and Schwede T. The SWISS-MODEL workspace: A web-based environment for protein structure homology modelling. Bioinformatics 22 (2006) 195-201
16. Vriend G. WHAT IF: A molecular modeling and drug design program. J Mol Graph 8 (1990) 52-56
17. Andreasson S. Electroretinographic studies of families with dominant retinitis pigmentosa. Acta Ophthalmol. (Copenh.) 69 (1991) 162-168
18. Inglehearn C.F., Keen T.J., al-Maghtheh M., Gregory C.Y., Jay M.R., Moore A.T., Bird A.C., and Bhattacharya S.S. Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9). Am. J. Hum. Genet. 54 (1994) 675-680
19. Kremer H., Pinckers A., van den Helm B., Deutman A.F., Ropers H.H., and Mariman E.C. Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. Hum. Mol. Genet. 3 (1994) 299-302
20. Stogios P.J., and Prive G.G. The BACK domain in BTB-kelch proteins. Trends Biochem. Sci. 29 (2004) 634-637
21. Perez-Torrado R., Yamada D., and Defossez P.A. Born to bind: The BTB protein-protein interaction domain. Bioessays 28 (2006) 1194-1202
22. Orlicky S., Tang X., Willems A., Tyers M., and Sicheri F. Structural basis for phosphodependent substrate selection and orientation by the SCFCdc4 ubiquitin ligase. Cell 112 (2003) 243-256
23. Williams D.S. Transport to the photoreceptor outer segment by myosin VIIa and kinesin II. Vision Res. 42 (2002) 455-462
24. Tan E., Wang Q., Quiambao A.B., Xu X., Qtaishat N.M., Peachey N.S., Lem J., Fliesler S.J., Pepperberg D.R., Naash M.I., et al. The relationship between opsin overexpression and photoreceptor degeneration. Invest. Ophthalmol. Vis. Sci. 42 (2001) 589-600
25. Lem J., Krasnoperova N.V., Calvert P.D., Kosaras B., Cameron D.A., Nicolo M., Makino C.L., and Sidman R.L. Morphological, physiological, and biochemical changes in rhodopsin knockout mice. Proc. Natl. Acad. Sci. USA 96 (1999) 736-741
26. Farrar G.J., Kenna P., Redmond R., Shiels D., McWilliam P., Humphries M.M., Sharp E.M., Jordan S., Kumar-Singh R., and Humphries P. Autosomal dominant retinitis pigmentosa: A mutation in codon 178 of the rhodopsin gene in two families of Celtic origin. Genomics 11 (1991) 1170-1171
27. Dryja T.P., McGee T.L., Reichel E., Hahn L.B., Cowley G.S., Yandell D.W., Sandberg M.A., and Berson E.L. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343 (1990) 364-366
28. Pierce E.A., Quinn T., Meehan T., McGee T.L., Berson E.L., and Dryja T.P. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat. Genet. 22 (1999) 248-254
29. Freund C.L., Gregory-Evans C.Y., Furukawa T., Papaioannou M., Looser J., Ploder L., Bellingham J., Ng D., Herbrick J.A., Duncan A., et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 91 (1997) 543-553
30. Bessant D.A., Payne A.M., Mitton K.P., Wang Q.L., Swain P.K., Plant C., Bird A.C., Zack D.J., Swaroop A., and Bhattacharya S.S. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nat. Genet. 21 (1999) 355-356
31. Meindl A., Dry K., Herrmann K., Manson F., Ciccodicola A., Edgar A., Carvalho M.R., Achatz H., Hellebrand H., Lennon A., et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat. Genet. 13 (1996) 35-42
32. den Hollander A.I., Koenekoop R.K., Yzer S., Lopez I., Arends M.L., Voesenek K.E., Zonneveld M.N., Strom T.M., Meitinger T., Brunner H.G., et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am. J. Hum. Genet. 79 (2006) 556-561
33. Chakarova C.F., Papaioannou M.G., Khanna H., Lopez I., Waseem N., Shah A., Theis T., Friedman J., Maubaret C., Bujakowska K., et al. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am. J. Hum. Genet. 81 (2007) 1098-1103
34. Chakarova C.F., Hims M.M., Bolz H., Abu-Safieh L., Patel R.J., Papaioannou M.G., Inglehearn C.F., Keen T.J., Willis C., Moore A.T., et al. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum. Mol. Genet. 11 (2002) 87-92
35. McKie A.B., McHale J.C., Keen T.J., Tarttelin E.E., Goliath R., van Lith-Verhoeven J.J., Greenberg J., Ramesar R.S., Hoyng C.B., Cremers F.P., et al. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum. Mol. Genet. 10 (2001) 1555-1562
36. Vithana E.N., Abu-Safieh L., Allen M.J., Carey A., Papaioannou M., Chakarova C., Al-Maghtheh M., Ebenezer N.D., Willis C., Moore A.T., et al. 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
37. Assou S., Cerecedo D., Tondeur S., Pantesco V., Hovatta O., Klein B., Hamamah S., and De Vos J. A gene expression signature shared by human mature oocytes and embryonic stem cells. BMC Genomics 10 (2009) 10
38. Uchida K., Akita Y., Matsuo K., Fujiwara S., Nakagawa A., Kazaoka Y., Hachiya H., Naganawa Y., Oh-Iwa I., Ohura K., et al. Identification of specific autoantigens in Sjogren's syndrome by SEREX. Immunology 116 (2005) 53-63
39. Bredholt G., Storstein A., Haugen M., Krossnes B.K., Husebye E., Knappskog P., and Vedeler C.A. Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera. Scand. J. Immunol. 64 (2006) 325-335
40. Sumara I., Maerki S., and Peter M. E3 ubiquitin ligases and mitosis: Embracing the complexity. Trends Cell Biol. 18 (2008) 84-94
41. Rondou P., Haegeman G., Vanhoenacker P., and Van Craenenbroeck K. BTB Protein KLHL12 targets the dopamine D4 receptor for ubiquitination by a Cul3-based E3 ligase. J. Biol. Chem. 283 (2008) 11083-11096
42. Rubinsztein D.C. The roles of intracellular protein-degradation pathways in neurodegeneration. Nature 443 (2006) 780-786
43. Tai H.C., and Schuman E.M. Ubiquitin, the proteasome and protein degradation in neuronal function and dysfunction. Nature reviews 9 (2008) 826-838
44. Bomont P., Cavalier L., Blondeau F., Ben Hamida C., Belal S., Tazir M., Demir E., Topaloglu H., Korinthenberg R., Tuysuz B., et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat. Genet. 26 (2000) 370-374
45. Yang Y., Allen E., Ding J., and Wang W. Giant axonal neuropathy. Cell. Mol. Life Sci. 64 (2007) 601-609