KCTD13 a Driver of Neurodevelopmental Phenotypes Associated with the 16p11.2 CNV
Golzio, Willer et al., Nature
An international team led by investigators at Duke University shows that KCTD13 "is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 CNV [copy-number variant]," a finding that it says substantiates "the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes, and offer an efficient route to identifying dosage-sensitive loci."
The Iceman Hath Come
February 28, 2012
Researchers have published the full genome of Ötzi the Iceman, a mummy found in the Alps who is thought to have died 5,300 years ago, reports New Scientist's Andy Coghlan. Ötzi's DNA reveals that he had brown eyes, brown hair, was lactose intolerant, and that his descendants live in Corsica and Sardinia, Coghlan says. The study, published in Nature Communications, also shows that Ötzi had a high likelihood of developing heart disease as he carried a mutation that raises the risk of coronary heart disease by 40 percent in modern humans.
Not Exactly Rocket Science's Ed Yong adds that Ötzi's genome shows that he "carried a large genomic region known as the 'Y chromosome', which significantly increases the risk of traipsing about in the a*se-end of nowhere with very little protective clothing, and getting shot by arrows."
That Y chromosome is not only
That Y chromosome is not only dangerous, it is found in approximately 50% of the human population.
Segments of his female
Segments of his female cohort's DNA were identified in copralite material from a short-faced Bear in Germany.
I guess the male offspring transmitted their DNA to Sardinia, which seems a clever place to escape to........