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DNA Sequence Volume 15, 2004 - Issue 3
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Research Article

Cloning and Characterization of a Splice Variant of Human Bardet-Biedl Syndrome 4 Gene (BBS4)

Xin Ye State Key Laboratory of Genetic Engineering Institute of Genetics, School of Life Sciences, Fudan University 200433 Shanghai People's Republic of China
,
Jianliang Dai State Key Laboratory of Genetic Engineering Institute of Genetics, School of Life Sciences, Fudan University 200433 Shanghai People's Republic of China
,
Weiqun Fang State Key Laboratory of Genetic Engineering Institute of Genetics, School of Life Sciences, Fudan University 200433 Shanghai People's Republic of China
,
Wei Jin State Key Laboratory of Genetic Engineering Institute of Genetics, School of Life Sciences, Fudan University 200433 Shanghai People's Republic of China
,
Yi Guo State Key Laboratory of Genetic Engineering Institute of Genetics, School of Life Sciences, Fudan University 200433 Shanghai People's Republic of China
,
Jiaping Song State Key Laboratory of Genetic Engineering Institute of Genetics, School of Life Sciences, Fudan University 200433 Shanghai People's Republic of China
,
Chaoneng Ji State Key Laboratory of Genetic Engineering Institute of Genetics, School of Life Sciences, Fudan University 200433 Shanghai People's Republic of China
,
Shaohua Gu State Key Laboratory of Genetic Engineering Institute of Genetics, School of Life Sciences, Fudan University 200433 Shanghai People's Republic of China
,
Yi Xie State Key Laboratory of Genetic Engineering Institute of Genetics, School of Life Sciences, Fudan University 200433 Shanghai People's Republic of China
&
Yumin Mao State Key Laboratory of Genetic Engineering Institute of Genetics, School of Life Sciences, Fudan University 200433 Shanghai People's Republic of China
 show all
Pages 213-218 | Published online: 11 Jul 2009

References

  • 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.
  • 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.
  • 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.
  • Deininger, P.L. and Batzer, M.A. (1999) “Alu repeats and human disease”, Mol. Gen. Metab. 67, 183– 193.
  • Farag, T.I. and Teebi, A.S. (1989) “High incidence of Bardet–Biedl syndrome among the Bedouin”, Clin. Genet. 36, 463– 465.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Kozak, M. (1987) “An analysis of 50 -noncoding sequences from 699 vertebrate messenger RNAs”, Nucl. Acids. Res. 15(20), 8125– 8148.
  • 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.
  • 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 hetero- geneous”, Nat. Genet. 7, 108– 112.
  • Lubas, W.A., Frank, D.W., Krause, M. and Hanover, J.A. (1997) “O-linked GlcNAc transferase is a conserved nucleocyto- plasmic protein containing tetratricopeptide repeats”, J. Biol. Chem. 272, 9316– 9324.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

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