Spotlight on spotted mice: A review of white spotting mouse mutants and associated human pigmentation disorders

被引:82
作者
Baxter, LL [1 ]
Hou, L [1 ]
Loftus, SK [1 ]
Pavan, WJ [1 ]
机构
[1] NHGRI, Mouse Embryol Sect, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA
来源
PIGMENT CELL RESEARCH | 2004年 / 17卷 / 03期
关键词
neural crest; mutant; spotting; hypopigmentation; neurocristopathy; melanocyte;
D O I
10.1111/j.1600-0749.2004.00147.x
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Mutation of genes that regulate neural crest-derived melanoblast development and survival can result in reduction and/or loss of mature melanocytes. The reduction in melanocyte number in the skin and hair follicles manifests itself as areas of hypopigmentation, commonly described as white spotting in mice. To date ten genes have been identified which are associated with white-spotting phenotypes in mouse. Seven of these genes are associated with neural crest and melanocyte disorders in humans. This review summarizes the phenotypes associated with mutation of these genes in both mouse and man. We describe our current understanding of how these genes function in development, and explore their complex roles regulating the various stages of melanocyte development.
引用
收藏
页码:215 / 224
页数:10
相关论文
共 141 条
  • [31] FROM WHITE SPOTS TO STEM-CELLS - THE ROLE OF THE KIT RECEPTOR IN MAMMALIAN DEVELOPMENT
    FLEISCHMAN, RA
    [J]. TRENDS IN GENETICS, 1993, 9 (08) : 285 - 290
  • [32] FRANZ T, 1993, ANAT EMBRYOL, V187, P371
  • [33] Microphthalmia-associated transcription factor (MITF) is required but is not sufficient to induce the expression of melanogenic genes
    Gaggioli, C
    Buscà, R
    Abbe, P
    Ortonne, JP
    Ballotti, R
    [J]. PIGMENT CELL RESEARCH, 2003, 16 (04): : 374 - 382
  • [34] THE DOMINANT-WHITE SPOTTING (W) LOCUS OF THE MOUSE ENCODES THE C-KIT PROTO-ONCOGENE
    GEISSLER, EN
    RYAN, MA
    HOUSMAN, DE
    [J]. CELL, 1988, 55 (01) : 185 - 192
  • [35] MUTATION OF THE KIT (MAST STEM-CELL GROWTH-FACTOR RECEPTOR) PROTOONCOGENE IN HUMAN PIEBALDISM
    GIEBEL, LB
    SPRITZ, RA
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (19) : 8696 - 8699
  • [36] MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes
    Hemesath, TJ
    Price, ER
    Takemoto, C
    Badalian, T
    Fisher, DE
    [J]. NATURE, 1998, 391 (6664) : 298 - 301
  • [37] Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease
    Herbarth, B
    Pingault, V
    Bondurand, N
    Kuhlbrodt, K
    Hermans-Borgmeyer, I
    Puliti, A
    Lemort, N
    Goossens, M
    Wegner, M
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (09) : 5161 - 5165
  • [38] Hertwig P., 1942, ZEITSCHR INDUKT ABSTAMM U VERERBUNGSL, V80, P220, DOI 10.1007/BF01741984
  • [39] Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors
    Hirota, S
    Isozaki, K
    Moriyama, Y
    Hashimoto, K
    Nishida, T
    Ishiguro, S
    Kawano, K
    Hanada, M
    Kurata, A
    Takeda, M
    Tunio, GM
    Matsuzawa, Y
    Kanakura, Y
    Shinomura, Y
    Kitamura, Y
    [J]. SCIENCE, 1998, 279 (5350) : 577 - 580
  • [40] MUTATIONS AT THE MOUSE MICROPHTHALMIA LOCUS ARE ASSOCIATED WITH DEFECTS IN A GENE ENCODING A NOVEL BASIC-HELIX-LOOP-HELIX-ZIPPER PROTEIN
    HODGKINSON, CA
    MOORE, KJ
    NAKAYAMA, A
    STEINGRIMSSON, E
    COPELAND, NG
    JENKINS, NA
    ARNHEITER, H
    [J]. CELL, 1993, 74 (02) : 395 - 404