Microphthalmia-associated transcription factor (MITF) locus lacks linkage to human vitiligo or osteopetrosis: an evaluation.
Microphthalmia-associated transcription factor (MITF) locus lacks linkage to human vitiligo or osteopetrosis: an evaluation.
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小眼相关转录因子（MITF）基因座与人类白癜风或骨石症缺乏联系：一项评估。
DOI：
10.1111/j.1600-0749.1999.tb00512.x
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发表时间：
1999
期刊：
影响因子：
--
通讯作者：
Nordlund,JJ
中科院分区：
文献类型：
--
作者：
Tripathi,RK;Flanders,DJ;Young,TL;Oetting,WS;Ramaiah,A;King,RA;Boissy,RE;Nordlund,JJ
小眼畸形相关转录因子（MITF）基因定位于人类染色体3 p12-p14.1，编码一个与多种转录因子同源的碱性螺旋-环-螺旋拉链（bHLH-ZIP）蛋白。已经描述了小鼠小眼症（mi）基因座的许多突变，并且所有突变都具有眼睛、耳朵和/或皮毛色素沉着减少或缺失，其中一些基因型表现出小眼睛或缺失和骨硬化症。鼠半毛处的维生素/维生素突变产生类似于人类白癜风的出生后色素脱失。该等位基因纯合子小鼠随着年龄的增长，皮肤、毛发和眼部色素沉着逐渐减少。白癜风是一种获得性色素脱失性疾病，其特征在于皮肤的斑片状色素脱失，通常在青春期左右开始，并且随着时间的推移趋于变得更加渐进。有提示性证据表明，人类白癜风可能是遗传的;然而，遗传方式仍有争议，发病机制尚不清楚。人类疾病石骨症的特征在于骨骼质量的普遍净积累，并且是由骨中破骨细胞功能降低引起的。这是一种遗传性疾病，并与突变小鼠的线粒体有关。因此，MITFlocus可能参与家族性白癜风或石骨症的发病机制进行了研究。利用微卫星多态性标记D3 S2465、D3 S1261和D3 S1766对26个白癜风/石骨症家系的基因组DNA进行连锁分析。D3 S1261位于MITFlocus或附近，而D3 S2465和D3 S1766位于MITFlocus两侧，遗传距离约为17.5cM。来自LOD评分分析的证据令人惊讶地表明，白癜风或骨硬化症的家庭中没有一个与这些短串联重复序列多态性（STRP）相关。因此，mousemigene的人类同源物（MITF），在表型水平上的一个很好的候选基因，可能不参与家族性人类白癜风或骨硬化症的发病机制。
Themicrophthalmia‐associated transcription factor (MITF)locus has been mapped to human chromosome 3p12‐p14.1, and encodes a basic helix‐loop‐helix zipper (bHLH‐ZIP) protein homologous to a number of transcription factors. Numerous mutations at the mousemicrophthalmia(mi) locus have been described, and all have reduced or absent pigmentation of the eyes, ears, and/or pelage, with some genotypes exhibiting small or absent eyes and osteopetrosis. Themivit/vitmutation at the mousemilocus produces a postnatal depigmentation that resembles human vitiligo. The mice homozygous for thismiallele show a progressive loss of cutaneous, hair and ocular pigmentation with age. Vitiligo, an acquired depigmentary disorder, is characterized by patchy depigmentation of skin that generally begins around puberty and tends to become more progressive over time. There is suggestive evidence that human vitiligo may be inherited; however, the mode of inheritance is still debated and the pathogenesis is not clearly delineated. The human disorder osteopetrosis is characterized by a generalized net accumulation of skeletal mass and results from reduced osteoclast function in the bone. This is an inherited disorder and has been associated withmiin a mutant mouse. Therefore, the possible involvement of theMITFlocus in the pathogenesis of either familial vitiligo or osteopetrosis was investigated. Linkage analysis was performed using microsatellite polymorphic markers D3S2465, D3S1261, and D3S1766 on genomic DNA from 26 families with vitiligo/osteopetrosis. D3S1261 is physically located at or near theMITFlocus, while D3S2465 and D3S1766 are flanking the locus at about 17.5 cM genetic distance each side. Evidence from LOD score analysis surprisingly indicated that none of the families with vitiligo or osteopetrosis are linked to these short tandem repeat polymorphisms (STRPs). Thus, the human homolog(MITF)of the mousemigene, a good candidate gene at the phenotypic level, may not be involved in the pathogenesis of familial human vitiligo or osteopetrosis.
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影响因子：
9.8
作者：
R. K. Tripathi;S. Bundey;M. Musarella;S. Droetto;K. Strunk;S. A. Holmes;R. Spritz
通讯作者：
R. K. Tripathi;S. Bundey;M. Musarella;S. Droetto;K. Strunk;S. A. Holmes;R. Spritz
影响因子：
4.2
作者：
Seifert,MF;Popoff,SN;Jackson,ME;MacKay,CA;Cielinski,M;MarksJr,SC
通讯作者：
MarksJr,SC
vit 基因映射到实验室小鼠的 mi（小眼症）基因座。
DOI：
10.1093/oxfordjournals.jhered.a111247
发表时间：
1992
期刊：
The Journal of heredity
影响因子：
--
作者：
M. Lamoreux;Raymond E. Boissy;James E. Womack;James J. Nordlund
通讯作者：
James J. Nordlund
脱色 C57BL/Ler-vit/vit 小鼠的免疫研究。
DOI：
--
发表时间：
1988
期刊：
Journal of immunology (Baltimore, Md. : 1950)
影响因子：
--
作者：
Amornsiripanitch,S;Barnes,LM;Nordlund,JJ;Trinkle,LS;Rheins,LA
通讯作者：
Rheins,LA
黑素细胞在表皮炎症和免疫反应中的作用
DOI：
--
发表时间：
1988
期刊：
影响因子：
--
作者：
J. Nordlund;S. Amornsiripanitch;L. Rheins;Z. Abdel‐Malek;R. Boissy;M. Bell
通讯作者：
M. Bell