生物谷援引：據(jù)2007年7月31日netindia123網(wǎng)站報告,，美國科羅拉多衛(wèi)生科學(xué)中心大學(xué)和斯坦福大學(xué)聯(lián)合研究小組公布了一項大規(guī)?；蚪M研究的結(jié)果,，該研究旨在調(diào)查10種靈長類動物（包括人類在內(nèi)）之間基因復(fù)制數(shù)量的差異,。該研究全面調(diào)查了不同種系靈長類動物的基因和基因族,，它們在長達6000萬年的進化時間里,，曾經(jīng)歷過主要基因復(fù)制數(shù)量的擴張和收縮,。
為了調(diào)查這10種靈長類動物之間基因復(fù)制數(shù)量的差異,，科研人員使用了帶有24000多個人類DAN的微陣列來開展對比性基因雜交試驗。接著,，他們把人類的DNA樣本與其它9種靈長類動物的DNA樣本進行對比,，這9種靈長類動物分別為：黑猩猩、大猩猩,、倭黑猩猩,、猩猩、長臂猿,、短尾猿,、狒狒、狨和狐猴,。這種對比使他們識別出了一些特殊的基因和基因族,，這些基因和基因族在進化過程中曾經(jīng)歷過種系特異性基因復(fù)制數(shù)量的增加和減少。
科學(xué)家聲稱,，他們發(fā)現(xiàn)“許多已識別出的基因很可能與造就人類和其它9種靈長類動物的種系遺傳特點有重要關(guān)系”,。為了闡明這一潛在的可能性，科學(xué)家重點強調(diào)了幾種表現(xiàn)出驚人的種系特異性差異的基因族,。其中一個基因稱為AQP7，它的人類種系特異性基因復(fù)制數(shù)量的擴張可以解釋為什么人類進化出了長跑的耐力,。AQP7的全稱為水通道蛋白－7（aquaporin 7）,，它的作用是穿過細(xì)胞膜傳送水和甘油?？蒲腥藛T撰寫的這篇研究論文發(fā)表在《基因組研究》雜志網(wǎng)絡(luò)版上,。因此，在人類進行劇烈運動期間,，AQP7將捉使人體動用糖原（即能量）貯備,。它同時還可以幫助人類通過出汗來排除多余的熱量。
科學(xué)家稱,，他們還發(fā)現(xiàn)基因復(fù)制數(shù)量的巨大差異與認(rèn)知,、繁殖、免疫和遺傳病敏感性有潛在的關(guān)系。詹姆士.西克拉教授說：“靈長類動物大約于9000萬年首次出現(xiàn)在地球上,，而今,，大約存在300種不同種類的靈長類動物。靈長類動物進化的主要基因推動力之一是基因復(fù)制”,。他說：“據(jù)我所知,，這項研究是迄今為止對人類和靈長類動物基因復(fù)制數(shù)量變化最全面的評估。”（中國科技信息網(wǎng)Chinainfo）
原始出處:
Published online before print July 31, 2007
Genome Research, DOI: 10.1101/gr.6557307
Gene copy number variation spanning 60 million years of human and primate evolution
Laura Dumas1, Young H. Kim2, Anis Karimpour-Fard3, Michael Cox1,4,5, Janet Hopkins1,4,5, Jonathan R. Pollack2, and James M. Sikela1,4,5,6
1 Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora, Colorado 80045, USA; 2 Department of Pathology, Stanford University, Stanford, California 94305, USA; 3 Department of Preventative Medicine and Biometrics, University of Colorado at Denver and Health Sciences Center, Aurora, Colorado 80045, USA; 4 Neuroscience Program, University of Colorado at Denver and Health Sciences Center, Aurora, Colorado 80045, USA; 5 Department of Pharmacology, University of Colorado at Denver and Health Sciences Center, Aurora, Colorado 80045, USA
Given the evolutionary importance of gene duplication to the emergence of species-specific traits, we have extended the application of cDNA array-based comparative genomic hybridization (aCGH) to survey gene duplications and losses genome-wide across 10 primate species, including human. Using human cDNA arrays that contained 41,126 cDNAs, corresponding to 24,473 unique human genes, we identified 4159 genes that likely represent most of the major lineage-specific gene copy number gains and losses that have occurred in these species over the past 60 million years. We analyzed 1,233,780 gene-to-gene data points and found that gene gains typically outnumbered losses (ratio of gains/losses = 2.34) and these frequently cluster in complex and dynamic genomic regions that are likely to serve as gene nurseries. Almost one-third of all human genes (6696) exhibit an aCGH- predicted change in copy number in one or more of these species, and within-species gene amplification is also evident. Many of the genes identified here are likely to be important to lineage-specific traits including, for example, human-specific duplications of the AQP7 gene, which represent intriguing candidates to underlie the key physiological adaptations in thermoregulation and energy utilization that permitted human endurance running.
