Use of human polynucleotides for treatment, prevention and diagnosis of pigmentation disorders, especially premature whitening of hair, derived from chromosomes 9 or 6

摘要

Cosmetic or therapeutic use, in the field of pigmentation, of at least one polynucleotide fragment (I), of 30-5000 nucleotides (nt) and containing at least 18 consecutive nt that correspond to all or part of specific genes present on human chromosomes 9 or 6. Cosmetic or therapeutic use, in the field of pigmentation, of at least one polynucleotide fragment (I), of 30-5000 nucleotides (nt) and containing at least 18 consecutive nt that correspond to all or part of specific genes present on human chromosomes 9 or 6. The specified genes are: (a) for chromosome 9: FREQ, NT-030046.18, NT-030046.17, GTF3C5, CEL, CELL, FS, ABO, BARLH1, DDX31, GTF3C4 and Q96MA6; and (b) for chromosome 6: HLAG, NT-007592.446, .506, .507 or .508, HSPA1B, G8, NEU1, NG22, BAT8, HLA-DMB or -DMA,BRD2, HLA-DQA1 or -DQA2, NT-007592.588, .459 or .457, GRM4, RNF23 or FLJ22638. Independent claims are also included for the following: (1) diagnosing a predisposition to premature canitis (whitening of the hair) by identifying the alleles of the specified genes; (2) use of at least one of the SNP (single-nucleotide poymorphism) markers 418620, rs302919, 913705, 931886, 429269, 2526008, 2734988, 2734967, 1419664, 2517502, rs733539, rs494620, 154973, 206779, 60071 or rs763028 for determining genes implicated in pigmentation of the skin and other external parts of the body; (3) similar use and method of a combination of at least one (I) derived from chromosome 9 and at least one derived from chromosome 6; (4) kit containing at least two (I); and (5) similar method and use using a combination of at least one (I) derived from DDX31 or GTF3C4 and at least one fragment derived from the following genes (present on chromosomes 3, 5 or 11) KIAA1042, CCK, CACNA1D, ARHGEF3, AL133097, KLHL3, HNRPA0, CDC25C, EGR1, C5orf3, 6 or 7, LOC51308, ETF1, HSPA9B, PCDHA1 to 13, CSF1R, RPL7, PDGFRB, TCOF1, AL133039, CD74, RPS14, NDST1, G3BP, GLRA1, MFAP3, GALNT10, FLJ11715, GUCY1A2, CUL5, ACAT1, NPAT, ATM, AF035326, AF035327, AF035328, BC029536, FLJ20535, DED2, ENS303941, IGSF4, LOC51092, BC010946, TAGLN, PCSK7 or ENS300650. ACTIVITY : Dermatological. No details of tests for dermatological activity are given. MECHANISM OF ACTION : Modulating gene expression or activity of encoded products.