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Volumn 73, Issue 4, 2009, Pages 422-428

Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting

Author keywords

Hermansky Pudlak syndrome; Lysosome related organelle; Mutation analysis; Phylogenetic footprinting; Promoter

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN; PROTEIN HPS3; PROTEIN HPS5; PROTEIN HPS6; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR CACD; TRANSCRIPTION FACTOR CHURCHILL; TRANSCRIPTION FACTOR E2F; TRANSCRIPTION FACTOR PAX5; TRANSCRIPTION FACTOR ZIC1; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 5;

EID: 67149133283     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2009.00525.x     Document Type: Article
Times cited : (3)

References (29)
  • 2
    • 0041589546 scopus 로고    scopus 로고
    • FootPrinter: A program designed for phylogenetic footprinting
    • Blanchette, M. & Tompa, M. (2003) FootPrinter: A program designed for phylogenetic footprinting. Nucleic Acids Res 31, 3840-3842.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3840-3842
    • Blanchette, M.1    Tompa, M.2
  • 3
    • 17744396718 scopus 로고    scopus 로고
    • Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky-Pudlak syndrome
    • Bonifacino, J. S. (2004) Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky-Pudlak syndrome. Ann NY Acad Sci 1038, 103-114.
    • (2004) Ann NY Acad Sci , vol.1038 , pp. 103-114
    • Bonifacino, J.S.1
  • 4
    • 24644435903 scopus 로고    scopus 로고
    • The evolution of noncoding DNA: How much junk, how much func?
    • Castillo-Davis, C. I. (2005) The evolution of noncoding DNA: How much junk, how much func? Trends Genet 21, 533-536.
    • (2005) Trends Genet , vol.21 , pp. 533-536
    • Castillo-Davis, C.I.1
  • 5
    • 0033007616 scopus 로고    scopus 로고
    • Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor
    • Dell'Angelica, E. C., Shotelersuk, V., Aguilar, R. C., Gahl, W. A. & Bonifacino, J. S. (1999) Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor. Mol Cell 3, 11-21.
    • (1999) Mol Cell , vol.3 , pp. 11-21
    • Dell'Angelica, E.C.1    Shotelersuk, V.2    Aguilar, R.C.3    Gahl, W.A.4    Bonifacino, J.S.5
  • 6
    • 16344369891 scopus 로고    scopus 로고
    • The identification and functional characterization of conserved promoter elements in developmental genes
    • Dickmeis, T. & Muller, F. (2005) The identification and functional characterization of conserved promoter elements in developmental genes. Brief Funct Genomic Proteomic 3, 332-350.
    • (2005) Brief Funct Genomic Proteomic , vol.3 , pp. 332-350
    • Dickmeis, T.1    Muller, F.2
  • 7
    • 1842588760 scopus 로고    scopus 로고
    • Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6
    • DiPietro, S. M., Falcon-Perez, J. M. & Dell'Angelica, E. C. (2004) Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic 5, 276-283.
    • (2004) Traffic , vol.5 , pp. 276-283
    • DiPietro, S.M.1    Falcon-Perez, J.M.2    Dell'Angelica, E.C.3
  • 8
    • 21044448584 scopus 로고    scopus 로고
    • The cell biology of Hermansky-Pudlak syndrome: Recent advances
    • DiPietro, S. M. & Dell'Angelica, E. C. (2005) The cell biology of Hermansky-Pudlak syndrome: Recent advances. Traffic 6, 525-533.
    • (2005) Traffic , vol.6 , pp. 525-533
    • DiPietro, S.M.1    Dell'Angelica, E.C.2
  • 9
    • 0030927867 scopus 로고    scopus 로고
    • Searching for promoter elements in human noncoding sequences
    • Duret, L. & Bucher, P. (1997) Searching for promoter elements in human noncoding sequences. Curr Op Struct Biol 7, 399-405.
    • (1997) Curr Op Struct Biol , vol.7 , pp. 399-405
    • Duret, L.1    Bucher, P.2
  • 11
    • 33745022082 scopus 로고    scopus 로고
    • Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles
    • Gautam, R., Novak, E. K., Tan, J., Wakamatsu, K., Ito, S. & Swank, R. T. (2006) Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles. Traffic 7, 779-792.
    • (2006) Traffic , vol.7 , pp. 779-792
    • Gautam, R.1    Novak, E.K.2    Tan, J.3    Wakamatsu, K.4    Ito, S.5    Swank, R.T.6
  • 12
    • 6444236367 scopus 로고
    • Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies
    • Hermansky, F. & Pudlak, P. (1959) Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies. Blood 14, 162-169.
    • (1959) Blood , vol.14 , pp. 162-169
    • Hermansky, F.1    Pudlak, P.2
  • 14
    • 0035990977 scopus 로고    scopus 로고
    • Disorders of vesicles of the lysosomal lineage: The Hermansky-Pudlak syndromes
    • Huizing, M. & Gahl, W. A. (2002) Disorders of vesicles of the lysosomal lineage: The Hermansky-Pudlak syndromes. Curr Mol Med 2, 451-467.
    • (2002) Curr Mol Med , vol.2 , pp. 451-467
    • Huizing, M.1    Gahl, W.A.2
  • 18
    • 0002580694 scopus 로고    scopus 로고
    • The metabolic and molecular bases of inherited disease
    • (eds. C. R. Scriver, A. L. Beaudet, D. L. Valle, W. S. Sly), New York: McGraw-Hill
    • King, R. A., Hearing, V. J., Creel, D. J. & Oetting, W. S. (2001) Albinism. In: The metabolic and molecular bases of inherited disease (eds. C. R. Scriver, A. L. Beaudet, D. L. Valle, W. S. Sly), pp. 5587-5627. New York: McGraw-Hill.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 5587-5627
    • King, R.A.1    Hearing, V.J.2    Creel, D.J.3    Oetting, W.S.4
  • 19
  • 20
    • 0043208690 scopus 로고    scopus 로고
    • BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4
    • Martina, J. A., Moriyama, K. & Bonifacino, J. S. (2003) BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem 278, 29376-29384.
    • (2003) J Biol Chem , vol.278 , pp. 29376-29384
    • Martina, J.A.1    Moriyama, K.2    Bonifacino, J.S.3
  • 21
    • 0042307384 scopus 로고    scopus 로고
    • Biogenesis of lysosome-related organelles complex 3 (BLOC-3): A complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4
    • Nazarian, R., Falcon-Perez, J. M. & Dell'Angelica, E. C. (2003) Biogenesis of lysosome-related organelles complex 3 (BLOC-3): A complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci USA 100, 8770-8775.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 8770-8775
    • Nazarian, R.1    Falcon-Perez, J.M.2    Dell'Angelica, E.C.3
  • 22
    • 0034835289 scopus 로고    scopus 로고
    • The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region
    • Phornphutkul, C., Anikster, Y., Huizing, M., Braun, P., Brodie, C., Chou, J. Y. & Gahl, W. A. (2001) The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. Am J Hum Genet 69, 712-721.
    • (2001) Am J Hum Genet , vol.69 , pp. 712-721
    • Phornphutkul, C.1    Anikster, Y.2    Huizing, M.3    Braun, P.4    Brodie, C.5    Chou, J.Y.6    Gahl, W.A.7
  • 23
    • 0035103547 scopus 로고    scopus 로고
    • Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria
    • Solis, C., Aizencang, G. I., Astrin, K. H., Bishop, D. F. & Desnick, R. J. (2001) Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. J Clin Invest 107, 753-762.
    • (2001) J Clin Invest , vol.107 , pp. 753-762
    • Solis, C.1    Aizencang, G.I.2    Astrin, K.H.3    Bishop, D.F.4    Desnick, R.J.5
  • 24
    • 3142580943 scopus 로고    scopus 로고
    • Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)
    • Starcevic, M. & Dell'Angelica, E. C. (2004) Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem 279, 28393-28401.
    • (2004) J Biol Chem , vol.279 , pp. 28393-28401
    • Starcevic, M.1    Dell'Angelica, E.C.2
  • 25
    • 0038664127 scopus 로고    scopus 로고
    • Identification and functional analysis of human transcriptional promoters
    • Trinklein, N., Force Aldred, S., Saldanha, A. & Myers, R. M. (2003) Identification and functional analysis of human transcriptional promoters. Genome Res 13, 308-312.
    • (2003) Genome Res , vol.13 , pp. 308-312
    • Trinklein, N.1    Force Aldred, S.2    Saldanha, A.3    Myers, R.M.4
  • 26
    • 33645057693 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function
    • Wei, M. (2006) Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function. Pig Cell Res 19, 19-41.
    • (2006) Pig Cell Res , vol.19 , pp. 19-41
    • Wei, M.1
  • 27
    • 15244358503 scopus 로고    scopus 로고
    • Systematic discovery of promoter motifs in human promoters and 3′ UTRs by comparison of several mammals
    • Xie, X., Lu, J., Kulbokas, E. J., Golub, T. R., Mootha, V., Lindblad-Toh, K., Landers, E. S. & Kelis, M. (2005) Systematic discovery of promoter motifs in human promoters and 3′ UTRs by comparison of several mammals. Nature 434, 17.
    • (2005) Nature , vol.434 , pp. 17
    • Xie, X.1    Lu, J.2    Kulbokas, E.J.3    Golub, T.R.4    Mootha, V.5    Lindblad-Toh, K.6    Landers, E.S.7    Kelis, M.8
  • 28
    • 0042561796 scopus 로고    scopus 로고
    • Of mice and men: Phylogenetic footprinting aids the discovery of promoter elements
    • Zhang, Z. & Gerstein, M. (2003) Of mice and men: Phylogenetic footprinting aids the discovery of promoter elements. J Biol 2, 11.
    • (2003) J Biol , vol.2 , pp. 11
    • Zhang, Z.1    Gerstein, M.2
  • 29
    • 0036021705 scopus 로고    scopus 로고
    • Why so many noncoding nucleotides? The eukaryote genome as an epigenetic machine
    • Zuckerland, E. (2002) Why so many noncoding nucleotides? The eukaryote genome as an epigenetic machine. Genetica 115, 105-129.
    • (2002) Genetica , vol.115 , pp. 105-129
    • Zuckerland, E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.