Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4)

DNA Sequence - Journal of DNA Sequencing and Mapping

Volumn 15, Issue 3, 2004, Pages 213-218

  Ye, Xin ^a   Dai, Jianliang ^a   Fang, Weiqun ^a   Jin, Wei ^a   Guo, Yi ^a   Song, Jiaping ^a   Ji, Chaoneng ^a   Gu, Shaohua ^a   Xie, Yi ^a   Mao, Yumin ^a  

^a FUDAN UNIVERSITY   (China)

Author keywords

Bardet Biedl syndrome; Disorder; Splice variant; Tetratricopeptide repeat

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; N ACETYLGLUCOSAMINYLTRANSFERASE; PROTEIN; RNA;

ARTICLE; BARDET BIEDL SYNDROME; BBS4 GENE; GENE; GENE LOCUS; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HYPOGONADISM; LIVER; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; OBESITY; OPEN READING FRAME; PANCREAS; POLYDACTYLY; PREDICTION; PRIORITY JOURNAL; PROSTATE; PROTEIN EXPRESSION; RETINA DEGENERATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SYSTEMIC DISEASE;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 15; CLONING, MOLECULAR; DNA PRIMERS; GENE COMPONENTS; HUMANS; LIVER; MALE; MOLECULAR SEQUENCE DATA; OPEN READING FRAMES; PANCREAS; PROSTATE; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 3142710083     PISSN: 10425179     EISSN: None     Source Type: Journal    
DOI: 10.1080/10425170410001679165     Document Type: Article

References (20)

1. Beales, P.L., Elcioglu, N., Woolf, A.S., Parker, D. and Flinter, F.A. (1999) "New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey", J. Med. Genet. 36, 437-446.
2. Bruford, E.A., Riise, R., Teague, P.W., Porter, K., Thomson, K.L., Moore, A.T., Jay, M., Warburg, M., Schinzel, A., Tommerup, N., et al. (1997) "Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21", Genomics 41, 93-99.
3. Carmi, R., Rokhlina, T., Kwitek-Black, A.E., Elbedour, K., Nishimura, D., Stone, E.M. and Sheffield, V.C. (1995) "Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15", Mol. Genet. 4, 9-13.
4. Deininger, P.L. and Batzer, M.A. (1999) "Alu repeats and human disease", Mol. Gen. Metab. 67, 183-193.
5. Farag, T.I. and Teebi, A.S. (1989) "High incidence of Bardet-Biedl syndrome among the Bedouin", Clin. Genet. 36, 463-465.
6. Green, J.S., Parfrey, P.S., Harnett, J.D., Faried, N.R., Cramer, B.C., Johnson, G., Health, O., McManamon, P.J., O'Leary, E. and Pryse-Phillips, W. (1989) "The cardinal manifestations at Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome", N. Engl. J. Med. 321, 1002-1009.
7. Jacobsen, S.E., Binkowski, K.A. and Olszewski, N.E. (1996) "SPINDLY, a tetratricopeptide repeat protein involved in gibberellin signal transduction in Arabidopsis", Proc. Natl Acad. Sci. 93, 9292-9296.
8. Katsanis, N., Beales, P.L., Woods, M.O., Lewis, R.A., Green, J.S., Parfrey, P.S., Ansley, S.J., Davidson, W.S. and Lupski, J.R. (2000) "Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome", Nat. Genet. 26, 67-70.
9. Katsanis, N., Ansley, S.J., Badano, J.L., Eichers, E.R., Lewis, R.A., Hoskins, B.E., Scambler, P.J., Davidson, W.S., Beales, P.L. and Lupski, J.R. (2001) "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder", Science 293, 2256-2259.
10. Katsanis, N., Eichers, E.R., Ansley, S.J., Lewis, R.A., Kayserili, H., Hoskins, B.E., Scambler, P.J., Beales, P.L. and Lupski, J.R. (2002) "BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance", Am. J. Hum. Genet. 71, 22-29.
11. Kozak, M. (1987) "An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs", Nucl. Acids. Res. 15(20), 8125-8148.
12. Kwitek-Black, A.E., Carmi, R., Duyk, G.M., Buetow, K.H., Elbedour, K., Parvari, R., Yandava, C.N., Stone, E.M. and Sheffield, V.C. (1993) "Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity", Nat. Genet. 5, 392-396.
13. Leppert, M., Baird, L., Anderson, K.L., Otterud, B., Lupski, J.R. and Lewis, R.A. (1994) "Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous", Nat. Genet. 7, 108-112.
14. Lubas, W.A., Frank, D.W., Krause, M. and Hanover, J.A. (1997) "O-linked GlcNAc transferase is a conserved nucleocytoplasmic protein containing tetratricopeptide repeats", J. Biol. Chem. 272, 9316-9324.
15. Mykytyn, K., Braun, T., Carmi, R., Haider, N.B., Searby, C.C., Shastri, M., Beck, G., Wright, A.F., Iannaccone, A., Elberdour, K., et al. (2001) "Identification of the gene that, when mutated, causes the human obesity syndrome BBS4", Nat. Genet. 28, 188-191.
16. Nishimura, D.Y., Searby, C.C., Carmi, R., Elbedour, K., Van Maldergem, L., ulton, A.B., Lam, B.L., Powell, B.R., Swidersk, R.E., Bugge, K.E., et al. (2001) "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)", Hum. Mol. Genet. 10, 865-874.
17. Sheffield, V.C., Carmi, R., Kwitek-Black, A., Rokhlina, T., Nishimura, D., Duyk, G.M., Elbedour, K., Sunden, S.L. and Stone, E.M. (1994) "Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping", Hum. Mol. Genet. 3, 1331-1335.
18. Smith, J.B. and Herschman, H.R. (1996) "The glucocorticoid attenuated response genes GARG-16, GARG-39, and GARG-49/IRG2 encode inducible proteins containing multiple tetratricopeptide repeat domains", Arch. Biochem. Biophys. 330(2), 290-300.
19. Ye, X., Ji, C., Huang, Q., Cheng, C., Tang, R., Xu, J., Zeng, L., Dai, J., Wu, Q., Gu, S., Xie, Y. and Mao, Y. (2003) "Isolation and characterization of a human putative receptor protein kinase cDNA STYK1", Mol. Biol. Rep. 30(2), 91-96.
20. Young, T-L., Penney, L., Woods, M.O., Parfrey, P.S., Green, J.S., Hefferton, D. and Davidson, W.S. (1999) "A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31", Am. J. Hum. Genet. 64, 901-904.