FOXP3 as an X-linked tumor suppressor.
FOXP3 as an X-linked tumor suppressor.
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DOI：
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发表时间：
2010-10
影响因子：
1.4
通讯作者：
Lizhong Wang;Runhua Liu;Mark Ribick;P. Zheng;Yang Liu
中科院分区：
文献类型：
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作者：
Lizhong Wang;Runhua Liu;Mark Ribick;P. Zheng;Yang Liu
FOXP3基因最初被发现是因为它的突变导致小鼠和人类致命的自身免疫性疾病。具有 FoxP3（小鼠版本的 FOXP3 基因）杂合突变的小鼠会自发地罹患乳腺肿瘤，而具有前列腺特异性缺失的小鼠则会出现前列腺上皮内瘤变。 FOXP3 的体细胞突变、缺失和表观遗传失活在人类乳腺癌和前列腺癌中广泛存在。与通常因两个等位基因突变而失活的常染色体肿瘤抑制基因不同，癌症样本中的 X 连锁 FOXP3 突变通常是杂合的，野生型等位基因在癌症中选择性失活。这种偏向的 X 失活表明了一种重新激活 FOXP3 用于癌症治疗的新方法。
The FOXP3 gene was initially identified because its mutation caused lethal autoimmune diseases in mice and humans. Mice with heterozygous mutations of FoxP3 (mouse version of the FOXP3 gene) succumb to mammary tumors spontaneously, while those with prostate-specific deletions develop prostate intraepithelial neoplasia. Somatic mutations, deletion, and epigenetic inactivation of FOXP3 are widespread among human breast and prostate cancers. Unlike autosomal tumor suppressor genes that are usually inactivated by mutations in both alleles, X-linked FOXP3 mutations in cancer samples are usually heterozygous, with the wildtype allele selectively inactivated in cancer. This skewed X-inactivation suggests a new approach to reactivation of FOXP3 for cancer therapy.