Human and mouse disorders of pigmentation

被引:60
作者
Spritz, RA [1 ]
Chiang, PW [1 ]
Oiso, N [1 ]
Alkhateeb, A [1 ]
机构
[1] Univ Colorado, Hlth Sci Ctr, Human Med Genet Program, Denver, CO 80262 USA
关键词
D O I
10.1016/S0959-437X(03)00059-5
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Disorders of pigmentation were among the first genetic diseases ever recognized because of their visually striking clinical phenotypes, resulting from defects of pigmentary melanocytes. Recent years have seen remarkable progress in understanding these diseases, largely as a result of the systematic parallel study of human patients and inbred mice with similar phenotypes. Our understanding of disorders of pigmentation indicates that these diseases may be most usefully considered as abnormalities of melanocyte development, function, or survival.
引用
收藏
页码:284 / 289
页数:6
相关论文
共 39 条
[1]   Epidemiology of vitiligo and associated autoimmune diseases in caucasian probands and their families [J].
Alkhateeb, A ;
Fain, PR ;
Thody, A ;
Bennett, DC ;
Spritz, RA .
PIGMENT CELL RESEARCH, 2003, 16 (03) :208-214
[2]   Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2 [J].
Alkhateeb, A ;
Stetler, GL ;
Old, W ;
Talbert, J ;
Uhlhorn, C ;
Taylor, M ;
Fox, A ;
Miller, C ;
Dills, DG ;
Ridgway, EC ;
Bennett, DC ;
Fain, PR ;
Spritz, RA .
HUMAN MOLECULAR GENETICS, 2002, 11 (06) :661-667
[3]  
ANDERSON PD, 2003, HUM GENET 0327
[4]   Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico [J].
Anikster, Y ;
Huizing, M ;
White, J ;
Shevchenko, YO ;
Fitzpatrick, DL ;
Touchman, JW ;
Compton, JG ;
Bale, SJ ;
Swank, RT ;
Gahl, WA ;
Toro, JR .
NATURE GENETICS, 2001, 28 (04) :376-380
[5]   Vitiligo: complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA [J].
Arcos-Burgos, M ;
Parodi, E ;
Salgar, M ;
Bedoya, E ;
Builes, JJ ;
Jaramillo, D ;
Ceballos, G ;
Uribe, A ;
Rivera, N ;
Rivera, D ;
Fonseca, I ;
Camargo, M ;
Palacio, LG .
HUMAN GENETICS, 2002, 110 (04) :334-342
[6]  
Brilliant MH, 2001, PIGM CELL RES, V14, P86, DOI 10.1034/j.1600-0749.2001.140203.x
[7]   Genetic association of the Catalase gene (CAT) with vitiligo susceptibility [J].
Casp, CB ;
She, JX ;
McCormack, WT .
PIGMENT CELL RESEARCH, 2002, 15 (01) :62-66
[8]  
CHIANG PW, 2003, J BIOL CHEM 0327
[9]   Identification of aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF [J].
Du, JY ;
Fisher, DE .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (01) :402-406
[10]  
FAIN PR, 2003, IN PRESS AM J HUM GE, V72