对人类基因组所做的一个计算性调查，识别出超过500个人类特有的基因组删除，这些删除去除了在黑猩猩和其他动物之间高度保守的序列。这些是有可能为人类生物学的独特之处做出贡献的基因组变化。所删除的序列大部分位于基因组中的非编码区域。有趣的是，人类基因组中的删除集中在神经发育和甾类激素信号作用中所涉及的基因附近，这与以前人们提出的观点是一致的：关键发育控制基因附近的调控性变化在人类进化中可能扮演重要角色。人类特有删除的具体例子包括影响阴茎解剖的一个删除和另一个与脑子大小有关的删除。（生物谷Bioon.com）
生物谷推荐原文出处：
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.
