IDENTIFICATION AND EXPRESSION OF SKIN SPECIFIC GENES

描述（由申请人提供）：表皮和头发是永久性的 不断更新的组织最终分化。这两个相关 组织的功能是防止水和热损失，并抵抗机械， 化学和微生物攻击虽然一些皮肤特异性蛋白质和 他们的基因已经被分离和表征，对他们的基因知之甚少。 控制分化或控制以下基因表达的基因，或 编码这些组织特有的基因。最近完成的序列 人类基因组的很大一部分，快速获取有关人类基因组的数据， 小鼠基因组，以及在小鼠中表达的基因文库的汇编。 特定组织利用生物信息学工具来识别和 描述皮肤特异性基因特别有吸引力和吸引力。我们将 使用EST（表达序列标签）聚类表达集合， 小鼠和人类序列的Unigene数据库， 主要或专门在皮肤中表达。一个平行的分析将是 使用CGAP提供的数字差分显示工具进行 数据库，以确定那些在皮肤中表达更丰富的基因， 但也在其他组织中表达，因为许多关键的皮肤调节因子可能 属于这一类。我们已经鉴定了大约1500张老鼠皮 集群和少量的人类集群，高度或完全 在皮肤上表达。表达的时间和空间分布将是 通过小鼠胚胎不同时期的RNA原位杂交分析， 在出生后小鼠皮肤中，以及在人胚胎、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绘制 以确定尚未表征的遗传疾病的候选者。这些 研究应该确定一个独特的基因的显着比例，或 主要在皮肤中表达，在发育中起主要作用， 差异化，从而为理解全面发展奠定了基础。 程序的皮肤，并确定候选基因的未表征的遗传 人类皮肤和毛发的疾病。

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.