恶人谷

Risk of Autism and Schizophrenia. Published in today's Nature magazine.

http://www.nytimes.com/2012/08/23/healt ... renia.html
http://www.nature.com/news/fathers-bequ ... ge-1.11247

(pm me if you want a copy of the paper)

Abstract

Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of
major importance to evolution. Here we conduct a study of genome-wide mutation rates by sequencing the entire
genomes of 78 Icelandic parent–offspring trios at high coverage. We show that in our samples, with an average
father’s age of 29.7, the average de novo mutation rate is 1.20e-8 per nucleotide per generation. Most notably, the
diversity in mutation rate of single nucleotide polymorphisms is dominated by the age of the father at conception of the
child. The effect is an increase of about two mutations per year. An exponential model estimates paternal mutations
doubling every 16.5 years. After accounting for random Poisson variation, father’s age is estimated to explain nearly all of
the remaining variation in the de novo mutation counts. These observations shed light on the importance of the father’s
age on the risk of diseases such as schizophrenia and autism.

西蒙同学能把内容总结一下么？造福象我这种看不动论文的笨人。

研究 autism 和 schizophrenia 的基因分析带来其他的感想，例如，其实 spontaneous (de novo) mutations 确实一点都不罕见，每个人的精子卵子里都会自动出现很多，只是大部分不会产生什么显著的作用，不会一下子制造出一批 X-Men 来。原教旨主义宗教信仰者总是说，人的生理结构这么复杂这么有用，一定是智慧上帝刻意设计的，不可能是进化来的，否则为什么我们看不见进化？实际上我们已经看见了进化论在现实中每分钟都在进行，mutations 真的是不停地随机发生发生发生，只不过显著的变化需要环境的选择压力才能变得明显而已。

哎，我记得我看过一篇文章，说遗传的要点其实不在于变异性，而在于稳定性。想想很有道理。其实。

我也看得似懂非懂的。白博来解释一下？

我就实用主义的看到哈哈哈，现在男人拖到四十岁还不生孩子也要受生物钟压力了，爽！男女平等又进步了一小步！

贴了一个abstract

又一次拍拍胸口说，好险。

我一定得教育欢欢乐乐别学爹妈，要么早点生孩子，要么就丁克到底得了。

我看x-men的时候也觉得这个变异的道理很吸引人...
那就是说遗传讲究的是稳定，所以要复制的话越早生越好。但是进化是靠一定的变异，所以晚生说不定很满足进化需求，虽然自闭症也可能只是变异的方向不那么令人满意。