對人類基因組所做的一個計算性調(diào)查，識別出超過500個人類特有的基因組刪除,，這些刪除去除了在黑猩猩和其他動物之間高度保守的序列,。這些是有可能為人類生物學(xué)的獨特之處做出貢獻的基因組變化。所刪除的序列大部分位于基因組中的非編碼區(qū)域,。有趣的是,，人類基因組中的刪除集中在神經(jīng)發(fā)育和甾類激素信號作用中所涉及的基因附近，這與以前人們提出的觀點是一致的：關(guān)鍵發(fā)育控制基因附近的調(diào)控性變化在人類進化中可能扮演重要角色,。人類特有刪除的具體例子包括影響陰莖解剖的一個刪除和另一個與腦子大小有關(guān)的刪除,。（生物谷Bioon.com）
生物谷推薦原文出處：
Nature doi:10.1038/nature09774
Human-specific loss of regulatory DNA and the evolution of human-specific traits
Cory Y. McLean,1, 4 Philip L. Reno,2, 3, 4, 5 Alex A. Pollen,2, 4 Abraham I. Bassan,2 Terence D. Capellini,2 Catherine Guenther,2, 3 Vahan B. Indjeian,2, 3 Xinhong Lim,2 Douglas B. Menke,2, 3, 5 Bruce T. Schaar,2 Aaron M. Wenger,1 Gill Bejerano1, 2 & David M. Kingsley2, 3
Humans differ from other animals in many aspects of anatomy, physiology, and behaviour; however, the genotypic basis of most human-specific traits remains unknown1. Recent whole-genome comparisons have made it possible to identify genes with elevated rates of amino acid change or divergent expression in humans, and non-coding sequences with accelerated base pair changes2, 3, 4, 5. Regulatory alterations may be particularly likely to produce phenotypic effects while preserving viability, and are known to underlie interesting evolutionary differences in other species6, 7, 8. Here we identify molecular events particularly likely to produce significant regulatory changes in humans: complete deletion of sequences otherwise highly conserved between chimpanzees and other mammals. We confirm 510 such deletions in humans, which fall almost exclusively in non-coding regions and are enriched near genes involved in steroid hormone signalling and neural function. One deletion removes a sensory vibrissae and penile spine enhancer from the human androgen receptor (AR) gene, a molecular change correlated with anatomical loss of androgen-dependent sensory vibrissae and penile spines in the human lineage9, 10. Another deletion removes a forebrain subventricular zone enhancer near the tumour suppressor gene growth arrest and DNA-damage-inducible, gamma (GADD45G)11, 12, a loss correlated with expansion of specific brain regions in humans. Deletions of tissue-specific enhancers may thus accompany both loss and gain traits in the human lineage, and provide specific examples of the kinds of regulatory alterations6, 7, 8 and inactivation events13 long proposed to have an important role in human evolutionary divergence.
