Expression Changes of Structural Protein Genes May Be Related to Adaptive Skin Characteristics Specific to Humans
Expression Changes of Structural Protein Genes May Be Related to Adaptive Skin Characteristics Specific to Humans
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DOI：
10.1093/gbe/evz007
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发表时间：
2019-03-01
影响因子：
3.3
通讯作者：
Terai, Yohey
中科院分区：
文献类型：
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作者：
Arakawa, Nami;Utsumi, Daisuke;Terai, Yohey
人类皮肤在形态和生理上与其他灵长类动物的皮肤不同。然而，人类特定皮肤特征的遗传原因仍不清楚。在这里，我们定量证明人类皮肤的表皮和真皮明显比三种旧大陆猴类的表皮和真皮厚。此外，我们指出，表皮基底膜区域的地形在人类中显示出网状脊，但在所检查的旧大陆猴种中是平坦的。随后，我们使用新一代 cDNA 测序 (RNA-Seq) 全面比较了人类和非人类类人猿皮肤之间的基因表达水平。我们鉴定了四种与表皮基底膜区或真皮弹性纤维相关的结构蛋白基因（COL18A1、LAMB2、CD151 和 BGN），它们在人类中的表达显着高于非人类类人猿，表明这些差异可能与人类皮肤中存在的网状脊和丰富的弹性纤维有关。网状脊可以增强皮肤表皮和真皮之间的粘附强度。这个脊，加上厚的表皮和丰富的弹性纤维，可能有助于人类皮肤的物理强度，而毛发数量很少。为了估计 COL18A1、LAMB2、CD151 和 BGN 的转录调控区，我们检查了具有组蛋白修饰的保守非编码区，这些修饰可以激活皮肤细胞中的转录。这些区域中的人类特异性取代，特别是位于皮肤中起作用的转录因子结合位点的取代，可能会改变基因表达模式并产生人类特异性的适应性皮肤特征。
Human skin is morphologically and physiologically different from the skin of other primates. However, the genetic causes underlying human-specific skin characteristics remain unclear. Here, we quantitatively demonstrate that the epidermis and dermis of human skin are significantly thicker than those of three Old World monkey species. In addition, we indicate that the topography of the epidermal basement membrane zone shows a rete ridge in humans but is flat in the Old World monkey species examined. Subsequently, we comprehensively compared gene expression levels between human and nonhuman great ape skin using next-generation cDNA sequencing (RNA-Seq). We identified four structural protein genes associated with the epidermal basement membrane zone or elastic fibers in the dermis (COL18A1, LAMB2, CD151, and BGN) that were expressed significantly greater in humans than in nonhuman great apes, suggesting that these differences may be related to the rete ridge and rich elastic fibers present in human skin. The rete ridge may enhance the strength of adhesion between the epidermis and dermis in skin. This ridge, along with a thick epidermis and rich elastic fibers might contribute to the physical strength of human skin with a low amount of hair. To estimate transcriptional regulatory regions for COL18A1, LAMB2, CD151, and BGN, we examined conserved noncoding regions with histone modifications that can activate transcription in skin cells. Human-specific substitutions in these regions, especially those located in binding sites of transcription factors which function in skin, may alter the gene expression patterns and give rise to the human-specific adaptive skin characteristics.