Regulation of Melanocyte Development and Differentiation

黑素细胞发育和分化的调节

• 批准号: 8349016
• 负责人: thomas j hornyak
• 金额: $ 6.55万
• 依托单位: DIVISION OF BASIC SCIENCES - NCI
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8349016
• 关键词: Cutaneous; Development; Disease; Ear; Exhibits; Functional disorder; Goals; Hearing; Hereditary Disease; Human; Individual; Inherited; Lead; Life; Melanoma Cell; Mus; Phenotype; Pigmentation physiologic function; Pigments; Regulation; Research; Syndrome; Tietze' s Syndrome; Waardenburg syndrome; Work; base; deafness; insight; melanocyte; mouse model; prevent

This project remains active principally to complete work describing melanocyte development and survival in a mouse model of the human deafness-pigmentation syndrome Waardenburg syndrome. In this study, the otic phenotype of this mouse model was studied. These mice exhibit a hearing deficit due to loss of melanocytes in the ear during the first several days of post-natal life. These results help to explain an important disparity between the severe otic pigmentary phenotype and the relatively mild cutaneous pigmentary phenotypes observed in individuals with the inherited developmental pigmentary disorders Waardenburg syndrome and Tietz syndrome. This work is currently under review at Pigment Cell & Melanoma Research.

该项目仍然活跃，主要是完成描述人类黑色素沉着综合征Waardenburg综合征小鼠模型中黑素细胞发育和存活的工作。在这项研究中，该小鼠模型的耳表型进行了研究。这些小鼠在出生后的头几天由于耳中黑色素细胞的损失而表现出听力缺陷。这些结果有助于解释一个重要的差异之间的严重的耳色素沉着表型和相对温和的皮肤色素沉着表型中观察到的遗传性发育性色素沉着疾病Waardenburg综合征和Tietz综合征的个人。这项工作目前正在审查色素细胞和黑色素瘤研究。