PATHOGENESIS OF OCULAR ALBINISM

描述(改编自申请者的摘要)：白化病是一个用于 描述一组遗传性疾病，这些疾病具有共同的减少 眼部和皮肤的色素沉着。这些障碍可能与 并伴有严重的眼部疾病。这项研究的最终目的是 了解控制色素沉着的基因位点突变是如何 会导致白化病。四个已知在控制中相互作用的遗传基因座 黑素生成及其与各种形式的眼球和眼球的关系 皮肤白化病有白化(C)、棕色(B)、板条状(SLT)和粉眼。 稀释(P)。为了实现他们的目标，申请者提议将 用细胞和分子生物学技术研究小鼠遗传学的力量 和生物化学。他们建议研究近交系小鼠的眼睛和皮肤 定义的基因、近交系小鼠培养的黑素细胞和非黑素细胞 并将已确定基因型别的黑素细胞表达 编码特定黑素小体蛋白的载体单独和组合。 化学交联剂和酵母“双杂交”系统也将 被用来进一步洞察这些黑素体之间的相互作用 蛋白质。

DESCRIPTION (Adapted from applicant's abstract): Albinism is a term used to describe a group of genetic disorders that have in common their reduction of ocular and often cutaneous pigmentation. These disorders can be associated with significant ocular morbidity. The ultimate goal of this research is to understand how mutations at genetic loci that control pigmentation can result in albinism. Four genetic loci known to interact in controlling melanogenesis and to be implicated in various forms of ocular and ocular cutaneous albinism are albino (c), brown (b), slaty (slt), and pink-eyed dilution (p). To accomplish their goals, the applicants propose to combine the power of mouse genetics with techniques of cell and molecular biology and biochemistry. They propose to study eyes and skin from inbred mice of defined genotype, melanocytes cultured from inbred mice, and nonmelanocytic and melanocytic cells of defined genotype transfected with expression vectors encoding specific melanosomal proteins singly and in combination. Chemical crosslinking and the yeast "two hybrid" system will also be employed to gain further insights into interactions among these melanosomal proteins.