IDENTIFICATION AND EXPRESSION OF SKIN SPECIFIC GENES

描述(申请人提供)：表皮和毛发是永久性的 更新分化为终末的组织。这两个相关 组织的功能是防止水分和热量的损失，并抵抗机械， 化学和微生物攻击。尽管一些皮肤特异的蛋白质和 它们的基因已经被分离和鉴定，对它们的 控制分化或控制其表达的基因，或 对这些组织特有的基因进行编码。最近完成的序列 人类基因组的很大一部分，快速获取关于 小鼠基因组，以及表达基因文库的汇编 特定的组织利用生物信息学工具来识别和 将皮肤特有的基因定性为特别吸引人和吸引人的。我们会 使用提供的EST(表达式序列标签)聚类表达式集合 用于识别基因的小鼠和人类序列的Unigene数据库 主要或仅在皮肤中表达。一项平行分析将是 使用CGAP中提供的数字差异显示工具进行 数据库中，为了识别那些在皮肤中表达更丰富的基因， 但也在其他组织中表达，就像许多关键的皮肤调节剂可能 属于这一类。我们已经鉴定了大约1500只老鼠的皮肤 集群和数量较少的高度或独占的人类集群 在皮肤中表达。表达的时空分布将是 对不同发育阶段的小鼠胚胎进行RNA原位杂交分析， 在出生后的小鼠皮肤中，以及在人类胚胎、胎儿和成人皮肤中。基因 将通过生物信息学程序或辐射混合技术绘制地图 绘制地图以确定尚未确定特征的遗传性疾病的候选对象。这些 研究应该唯一地识别相当大比例的基因或 主要在皮肤中表达，在发育和 分化，从而为理解全面发展奠定了基础 对皮肤进行编程，并确定非特征性遗传的候选基因 人类的皮肤和头发疾病。

DESCRIPTION (provided by applicant): Epidermis and hair are perpetually renewing tissues that become terminally differentiated. These two related tissues function to prevent water and heat loss, and to resist mechanical, chemical, and microbial assaults. Although some skin-specific proteins and their genes have been isolated and characterized, little is known about the genes that control differentiation or that control the expression of, or encode, genes specific to these tissues. The recent completion of the sequence of a large part of the human genome, the rapid acquisition of data about the mouse genome, as well as the compilation of libraries of genes expressed in specific tissues make the use of bioinformatic tools to identify and characterize skin-specific genes particularly attractive and appealing. We will use the EST (expression sequence tag) cluster expression collection provided by the Unigene databases of mouse and human sequences to identify genes predominantly or exclusively expressed in skin. A parallel analysis will be conducted using the Digital Differential Display tools, available in the CGAP database, to identify those genes that are expressed more abundantly in skin, but are also expressed in other tissues, as many crucial skin regulators may fall in this category. We have already identified approximately 1500 mouse skin clusters and a smaller number of human clusters that are highly or exclusively expressed in skin. The temporal and spatial distribution of expression will be analyzed by RNA in situ hybridization in the mouse embryo at different stages, in postnatal mouse skin, and in human embryonic, fetal and adult skin. Genes will be mapped either by bioinformatic procedures or by radiation hybrid mapping to identify candidates for yet uncharacterized genetic disorders. These studies should identify a significant proportion of the genes uniquely or predominantly expressed in skin that play the major roles in development and differentiation, thus set the stage to understand the full developmental program of the skin, and identify candidate genes for uncharacterized inherited human disorders of skin and hair.