PATHOGENESIS OF OCULAR ALBINISM

描述（改编自申请人的摘要）：白化病是一个术语，用于 描述了一组遗传性疾病，它们的共同点是减少了 眼睛和皮肤色素沉着。 这些疾病可能与 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的突变如何 导致白化病。 已知的四个基因位点在控制 黑色素生成，并涉及各种形式的眼和眼 皮肤白化病是白化病（c），棕色（B），板色（slt），和粉红色眼睛 稀释度（p）。 为了实现他们的目标，申请人建议将联合收割机 小鼠遗传学的力量与细胞和分子生物学技术 和生物化学。 他们打算研究10岁以下的近亲繁殖小鼠的眼睛和皮肤。 确定的基因型，从近交系小鼠培养的黑素细胞，和非黑素细胞， 和用表达转染的确定基因型的黑素细胞 单独和组合编码特定黑素体蛋白的载体。 化学交联和酵母“双杂交”体系也将在 用于进一步了解这些黑素体之间的相互作用， proteins.

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.