Cloning, mapping and characterization of the human RAB27A gene

Gene

Volumn 239, Issue 1, 1999, Pages 109-116

  Tolmachova, Tanya ^a   Ramalho, José S ^a   Anant, Janmeet S ^b   Schultz, Roger A ^b   Huxley, Clare M ^a   Seabra, Miguel C ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Choroideremia; Genomic structure; GTP binding proteins; Protein prenylation; Rab27a

Indexed keywords

RAB PROTEIN;

ARTICLE; CHOROIDEREMIA; DNA LIBRARY; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; GENETIC ANALYSIS; HUMAN; INTRACELLULAR TRANSPORT; MOLECULAR CLONING; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN TRANSPORT; SEQUENCE HOMOLOGY;

3' UNTRANSLATED REGIONS; AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME BANDING; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; CLONING, MOLECULAR; DNA, COMPLEMENTARY; EXONS; GENES; HUMANS; HYBRID CELLS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRONS; MOLECULAR SEQUENCE DATA; POLY A; RAB GTP-BINDING PROTEINS; RESTRICTION MAPPING; SEQUENCE ANALYSIS, DNA; TUMOR CELLS, CULTURED;

EID: 0032850593     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(99)00371-6     Document Type: Article

References (14)

1. Casey P.J., Seabra M.C. Protein prenyltransferases. J. Biol. Chem. 271:1996;5289-5292.
2. Chen D., Guo J., Miki T., Tachibana M., Gahl W.A. Molecular cloning and characterization of Rab27a and Rab27b, novel human rab proteins shared by melanocytes and platelets. Biochem. Mol. Med. 60:1997;27-37.
3. Craig C.M., Bickmore W.A. The distribution of CpG islands in mammalian chromosomes. Nature Genet. 7:1994;376-382.
4. Cremers F.P., van de Pol D.J., van Kerkhoff L.P., Wieringa B., Ropers H.H. Cloning of a gene that is rearranged in patients with choroideraemia. Nature. 347:1990;674-677.
5. Kozak M. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res. 15:1987;8125-8148.
6. Nagata K., Satoh T., Itoh H., Kozasa T., Okano Y., Doi T., Kaziro Y., Nozawa Y. The ram: a novel low molecular weight GTP-binding protein cDNA from a rat megakaryocyte library. FEBS Lett. 275:1990;29-32.
7. Seabra M.C. New insights into the pathogenesis of choroideremia: a tale of two REPs. Ophthal. Genet. 17:1996;43-46.
8. Seabra M.C., Brown M.S., Slaughter C.A., Sudhof T.C., Goldstein J.L. Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. Cell. 70:1992;1049-1057.
9. Seabra M.C., Brown M.S., Goldstein J.L. Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. Science. 259:1993;377-381.
10. Seabra M.C., Ho Y.K., Anant J.S. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. J. Biol. Chem. 270:1995;24420-24427.
11. Tonk V., Schneider N.R., Delgado M.R., Mao J.-I., Schultz R.A. Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2-q24.3)] inherited from a mother mosaic for the abnormality. Am. J. Med. Genet. 61:1996;16-20.
12. Walter M.A., Spillett D.J., Thomas P., Weissenbach J., Goodfellow P.N. A method for constructing radiation hybrid maps of whole genomes. Nature Genet. 7:1994;22-28.
13. Wilson T., Treisman R. Removal of poly(A) and consequent degradation of c-fos mRNA facilitated by 3′ AU-rich sequences. Nature. 336:1988;396-399.
14. Zerial M., Stenmark H. Rab GTPases in vesicular transport. Curr. Opin. Cell Biol. 5:1993;613-620.