SLUG (SNA12) deletions in patients with Waardenburg disease

Human Molecular Genetics

Volumn 11, Issue 25, 2002, Pages 3231-3236

  Sánchez Martín, Manuel ^a   Rodríguez García, Arancha ^a   Pérez Losada, Jesús ^a   Sagrera, Ana ^a   Read, Andrew P ^b   Sánchez García, Isidro ^a  

^a UNIVERSITY OF SALAMANCA   (Spain)

^b ST MARY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR SLUG; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; DNA BINDING PROTEIN; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; MITF PROTEIN, HUMAN; MITF PROTEIN, MOUSE; SNAI1B PROTEIN, ZEBRAFISH; SNAIL FAMILY TRANSCRIPTION FACTORS; STEM CELL FACTOR RECEPTOR; TRANSCRIPTION FACTOR; ZEBRAFISH PROTEIN;

ADOLESCENT; ANIMAL EXPERIMENT; ANIMAL MODEL; CELL LINEAGE; CELL MIGRATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE CLASSIFICATION; EMBRYO DEVELOPMENT; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; IN VIVO STUDY; MALE; MICROPHTHALMIA; MOUSE; NEURAL CREST; NEURAL CREST CELL; NONHUMAN; PIGMENT DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN ANALYSIS; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN POLYMORPHISM; PROTEIN PROTEIN INTERACTION; REVIEW; TRANSACTIVATION; WAARDENBURG SYNDROME; ANIMAL; ARTICLE; CASE REPORT; CHEMISTRY; CONGENIC STRAIN; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; MOUSE MUTANT;

ANIMALIA; GASTROPODA;

ADOLESCENT; ANIMALS; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; MALE; MICE; MICE, CONGENIC; MICE, MUTANT STRAINS; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; NEURAL CREST; PROMOTER REGIONS (GENETICS); PROTO-ONCOGENE PROTEINS C-KIT; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME; ZEBRAFISH PROTEINS;

EID: 0036898925     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (17)

1. Read, A.P. and Newton, V.E. (1997) Waardenburg syndrome. J. Med. Genet., 34, 656-665.
2. Latchman, D.S. (1996) Transcription-factor mutations and disease. N. Engl. J. Med., 334, 28-33.
3. Semenza, G.L. (1994) Transcriptional regulation of gene expression: mechanisms and pathophysiology. Hum. Mutat., 3, 180-194.
4. Tassabehji, M., Read, A.P., Newton, V.E., Hanus, R., Balling, R., Gross, P. and Strachan, T. (1992) Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature, 355, 635-636.
5. Tassabehji, M., Newton, V.E. and Read, A.P. (1994) Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat. Genet., 8, 251-255.
6. Pérez-Losada, J., Sánchez-Martín, M., Rodríguez-García, A., Flores, T., Sánchez, Ma.L., Orfao, A. and Sánchez-Garcia, I. (2002) The zinc-finger transcription factor SLUG contributes to the function of the SCF/c-kit signaling pathway. Blood, 100: 1274-1286.
7. Jiang, R., Lan, Y., Norton, C.R., Sundberg, J.P. and Gridley, T. (1998) The Slug gene is not essential for mesoderm or neural crest development in mice. Devl. Biol., 198, 277-285.
8. Liu, X.Z., Newton, V.E. and Read, A.P. (1995) Waardenburg syndrome type 2: phenotypic features and diagnostic aspects. Am. J. Med. Genet., 55, 95-100.
9. Opdecamp, K., Nakayama, A., Ngugen, M.T., Hodgkinson CA, Pavan, W.J. and Arnheiter, H. (1997) Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development, 124, 2377-2386.
10. Chabot, B., Stephenson, D.A., Chapman, V.M., Besmer, P. and Bernstein, A. (1988) The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature, 335, 88-89.
11. Geissler, E.N., Ryan, M.A. and Housman, D.E. (1988) The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene. Cell, 55, 185-192.
12. Fleischman R.A. (1993) From white spots to stem cells: the role of the Kit receptor in mammalian development. Trends Genet., 9, 285-290.
13. Hemesath, T.J., Price, E.R., Takemoto, C., Badalian, T. and Fisher, D.E. (1998) MAP kinase links the transcription factor Microphthalmia to Kit signalling in melanocytes. Nature, 391, 298-301.
14. Hou, L., Panthier, J.-J. and Arnheiter, H. (2000) Signaling and transcriptional regulation in the neural crest-derived melanocyte lineage: interactions between KIT and MITF. Development, 127, 5379-5389.
15. Garcia-Hernandez, B., Castellanos, A., Lopez, A., Orfao, A. and Sanchez-Garcia, I. (1997) Murine hematopoietic reconstitution after tagging and selection of retrovirally transduced bone marrow cells. Proc. Natl Acad. Sci. USA, 94, 13239-13244.
16. Souaze, E., Ntodou-Thome, A., Tran, C.Y., Postene, W. and Forgez, P. (1996) Quantitative RT-PCR: limits and accuracy. BioTechniques, 21, 280-283.
17. Mizushima, S. and Nagata, S. (1990) pEF-BOS, a powerful mammalian expression vector. Nucl. Acid Res., 18, 5322.