Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome

Journal of Investigative Dermatology

Volumn 114, Issue 4, 2000, Pages 731-733

  Lambert, Jo ^a   Naeyaert, Jean Marie ^a   De Paepe, Anne ^a   Van Coster, Rudy ^a   Ferster, Alina ^b   Song, Micheline ^b   Messiaen, Ludwine ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

Author keywords

Pigmentary disorder; Polymorphism; Silvery hair syndrome

Indexed keywords

AMINO ACID; ARGININE; CYSTEINE; DNA; MYOSIN;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HAIR DISEASE; HUMAN; HUMAN CELL; HUMAN TISSUE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PIGMENT DISORDER; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0034004926     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2000.00933.x     Document Type: Article

References (19)

1. Andreutti-Zaugg C, Scott RJ, Iggo R: Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques. Cancer Res 57:3288-3293, 1997
2. Bement WM, Wirth JA, Mooseker MS: Cloning and mRNA expression of human unconventional myosin-IC. J Mol Biol 243:356-363, 1994
3. Casals T, Ramos MD, Giménez J, Larriba S, Nunes V, Estivill X: High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. Hum Genet 101:365-370, 1997
4. Cheney RE, O'Shea MK, Heuser JE, et al: Brain myosin-V is a two-headed unconventional myosin with motor activity. Cell 75:13-23, 1993
5. Costa MCR, Mani F, Santoro W Jr, Espreafico EM, Larson RE: Brain myosin-V, a calmodulin-carrying myosin, binds to calmodulin-dependent protein kinase II and activates its kinase activity. J Biol Chem 274:15811-15819, 1999
6. Cotton RGH, Scriver CR: Proof of "disease causing" mutation. Hum Mutat 12:1-3, 1998
7. Engle LJ, Kennett RH: Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene. Genomics 19:407-416, 1994
8. Espreafico EM, Coling DE, Tsakralides V, Krogh K, Wolenski JS, Kalinec G, Kachar B: Localization of myosin-V in the centrosome. Proc Natl Acad Sci USA 95:8636-8641, 1998
9. Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Pruniéras M: A syndrome associating partial albinism and immunodeficiency. Am J Med 65:691-702, 1978
10. Hirokawa N: Kinesin and dynein superfamily proteins and the mechanism of organelle transport. Science 279:519-526, 1998
11. Huang J-D, Brady ST, Richards BW, Stenoien D, Reseau JH, Copeland NG, Jenkins NA: Direct interaction of microtubule-and actin-based transport motors. Nature 397:267-270, 1999
12. Lambert J, Onderwater J, Vander Haeghen Y, Vancoillie G, Koerten HK, Mommaas AM, Naeyaert JM: Myosin V colocalizes with melanosomes and subcortical actin bundles not associated with stress fibers in human epidermal melanocytes. J Invest Dermatol 111:835-840, 1998
13. Mercer JA, Seperack PK, Strobel MC, Copeland NG, Jenkins NA: Novel myosin heavy chain encoded by murine dilute coat color locus. Nature 349:709-713, 1991
14. Mermall V, Post PL, Mooseker MS: Unconventional myosins in cell movement, membrane traffic, and signal transduction. Science 279:527-533, 1998
15. Moore KJ, Testa JR, Francke U, Milatovich A, Copeland NG, Jenkins NA: Cloning and regional assignment of the human myosin heavy chain 12 (MYH12) gene to chromosome band 15q21. Cytogenet Cell Genet 69:53-58, 1995
16. Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N, Seger R, . Griscelli C, Fischer A, de Saint Basile G: Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet 16:289-292, 1997
17. Prekeris R, Terrian DM: Brain myosin V is a synaptic vesicle-associated motor protein: evidence for a Ca2+-dependent interaction with the synaptobrevin-synaptophysin complex. J Cell Biol 137:1589-1601, 1997
18. Tavormina PL, Shiang R, Thompson LM, et al: Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 9:321-327, 1995
19. Tsakralides V, Krogh K, Wang L, Bizario JCS, Larson RE, Espreafico EM, Wolenski JS: Subcellular localization of GFP-myosin-V in live mouse melanocytes. J Cell Sci 112:2853-2865, 1999