NOBODY would mistake a human for a chimpanzee, yet we share more DNA than mice and rats

do. How can that be? Advances in genomics are starting to unravel the mystery.

Line up the genomes of humans and chimps side by side and they differ by little more than 1 per
cent. That may not seem like much, but it equates to more than 30 million point mutations.
Around 80 per cent of our 30,000 genes are affected, and although most have just one or two
changes (Gene, vol 346, p 215), these can have dramatic effects. The protein made by the human
geneFOXP2, which helps us to speak, differs from its chimp counterpart by just two amino acids,
for example. And small changes in the microcephalin andASPM genes may underlie big
differences in brain size between humans and chimps.

But protein evolution is only part of what makes us human. Also critical are changes in gene
regulation - when and where genes are expressed during development - says James Noonan of
Yale University. Mutations in key developmental genes are likely to be fatal. But, he says:
"Altering the expression of a gene in a single tissue or at a single time can more easily lead to an
innovation that is not lethal." Noonan's lab is one of many that are busy comparing gene
expression in tissues such as the brain to home in on the key regulatory difference between
chimps and humans, most of which have still to be uncovered.

Then there's gene duplication. This can give rise to families of genes that diversify and take on
new functions, says Evan Eichler at the University of Washington in Seattle. His lab has identified
uniquely human gene families that affect many aspects of our biology, from the immune system
to brain development. He suspects that gene duplication has contributed to the evolution of
novel cognitive capacities in humans, but at a cost: greater susceptibility to neurological
disorders.

Copying errors mean whole chunks of DNA have been accidentally deleted. Other chunks find
themselves in new locations when mobile genetic elements jump around the genome or viruses
integrate themselves into our DNA. The human genome contains more than 26,000 of these so-
called INDELs, many linked with differences in gene expression between humans and chimps
(Mobile DNA, vol 2, p 13).

Even a complete catalogue of genetic differences will not solve the mystery. Much of what makes
us human is cultural, passed from generation to generation by learning, says Ajit Varki at the
University of California, San Diego. What's more, he says, The co-evolution of genes and culture is
a major force in human evolution, famously leaving the descendents of dairy farmers able to
digest milk protein, for example. To crack the mystery of human uniqueness we need to know
how genomes build bodies and brains, how brains create culture, and how culture eventually
feeds back to alter the genome. It remains a distant goal.
人类进化十大谜（之一）：我们与黑猩
猩：形不似而基因似？
2012-04-09 20:45:412044 浏览 ｜ 10 评论

人类和黑猩猩外貌截然不同，但这两者间的基因相似度却很高。

人类和黑猩猩外貌迥异，没有人会搞错，但这两者间的基因相似度却很高，高
过大鼠和小鼠之间的基因相似度。这怎么可能呢？基因组学研究正在解开这个谜
底。

把人类和黑猩猩的染色体组并排比较，二者差异略高于百分之一。看似不多，但
却相当于三千多万的点突变。我们 30,000 个基因的约百分之八十都会受影响，
尽管多数仅有一两处变异（见《基因》第 346 卷第 215 页），但影响可能十分巨
大。比如，人类 FOXP2 基因所制造的蛋白质作用于我们的语言能力，只有两 个
氨基酸与黑猩猩的相应蛋白质不同。此外，微脑磷脂和 ASPM 基因里的细微差别
可能决定了人类和黑猩猩大脑尺寸的巨大差异。

但是，蛋白质的进化只是造就人类的部分原因。耶鲁大学詹姆斯•努南（James
Noonan）说，基因调控的变化同等重要——在生长过程中基因何时何地进行表
达。关键性发展基因的突变很可能致命。不过他说：“通过改变单一组织的基因
表达或仅改变一次某个基因的表达来创新就不至于带来致命性后果。”努南的实
验室是众多忙于比较黑猩猩和人类大脑等组织之间的基因表达、找出关键性的调
控差 异的实验室，基因表达的调控差异大部分尚不为世人所知。

此外还有基因复制。西雅图华盛顿大学的伊万•艾克勒（Evan Eichler）说，由
此可能产生多样化和具备新功能的基因族。唯有他的实验室找出了影响了我们免
疫系统到大脑发展等多个方面生物性的基因族。他怀疑基因 复制对人类新认知
能力的进化起着作用，不过是有代价的：更容易神经紊乱。

复制错误就意味着整段的 DNA 被意外删除。别的基因段进入新的位置，基因组附

近出现活动的基因成分，或者病毒融入我们的 DNA。人类的基因组包含 26000 多
个这种所谓的基因插入/缺失（INDEL），许多都和人类与黑猩猩之间的基因表
达差异相关（《可移动的 DNA》第 2 卷第 13 页）。

即使取得完整的基因差异图也无法揭开这个谜团。加州大学圣地亚哥分校的阿吉
特•瓦基（Ajit Varki）说，造就人类的主要是代代传承的文化。他还说，基因
与文化的共同进化才是人类进化的主要力量，比如这个众所周知例子，畜牧业
牧民的后代擅于消 化牛奶蛋白。要解开人类特殊性之谜，我们必须了解基因组
如何构建出身体和大脑，大脑如何创造文化，文化最终又如何反过来改变基因
组。这个目标依然遥远。 本部分由身處橘子郡，Isabella_1989 初译，fking86
审译。 译者声明：转载请注明出处，无书面授权禁止商业用途。