TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa

Nature Genetics

Volumn 18, Issue 2, 1998, Pages 177-179

  Banerjee, Poulabi ^a   Kleyn, Patrick W ^b   Knowles, James A ^a   Lewis, Charles A ^c   Ross, Barbara M ^a   Parano, Enrico ^d   Kovats, Steve G ^b   Lee, John J ^b   Penchaszadeh, Graciela K ^a   Ott, Jürg ^e   Jacobson, Samuel G ^f   Conrad Gilliam, T ^a  

^a Depts of Genetics and Development Coll Phys Surgs at Columbia Univ New York State Psychiatric Institute ^*  (United States)

^b MILLENNIUM PHARMACEUTICALS INC   (United States)

^c Carrabelle Medical Center   (United States)

^d UNIVERSITY OF CATANIA   (Italy)

^e ROCKEFELLER UNIVERSITY   (United States)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 6P; DNA POLYMORPHISM; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SIGNAL TRANSDUCTION;

EID: 17144456542     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0298-177     Document Type: Article

References (15)

1. Knowles, J.A. et al. Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum. Mol. Genet. 3, 1401-1403 (1994).
2. Shugart, Y.Y. et al. Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21. Am. J. Hum. Genet. 57, 499-502 (1995).
3. Banerjee, P. et al. Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. Genomics (in press).
4. Ohlemiller, K.K. et al. Cochlear and retinal degeneration in the tubby mouse. Neuroreport 6, 845-849 (1995).
5. Kleyn, P.W. et al. Identification and characterization of the mouse obesity gene tubby: A member of a novel gene family. Cell 85, 281-290 (1996).
6. Noben-Trauth, K., Naggert, J.K., North, M.A. & Nishina, P.M. A candidate gene for the mouse mutation tubby. Nature 380, 534-538 (1996).
7. Kumar Singh, R. et al. Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8). Hum. Mol. Genet. 2, 875-878 (1993).
8. Dryja, T. P. & Li, T. Molecular genetics of retinitis pigmentosa. Hum. Mol. Genet. 4, 1739-1743 (1995).
9. North, M.A., Naggert, J.K., Van, Y., Noben-Trauth, K. & Nishina, P.M. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proc, Natl. Acad. Sci. USA 94, 3125-3133 (1997).
10. Hagstrom, S.A., North, M.A., Berson, E.L. & Dryja, T.P. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nature Genet. 18, 174-176 (1998).
11. Krawczak, M., Reiss, J. & Cooper, D.N. The mutational spectrum of single basepair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet. 90, 41-54 (1992).
12. Jacobson, S.G. et al. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 35, 2521-2534 (1994).
13. Reig, C. et al. New mutation in the 3′-Acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family. Hum. Mut. 8, 93-94 (1996).
14. Fujita, R. et al. Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. Am. J. Hum. Genet. 61, 571-580 (1997).
15. Lincoln, A.L., Daly, M. & Lander, E. PRIMER: a computer program for automatically selecting PCR primers. Whitehead Institute Technical Report (1991).