Česká Genetická Banka

NATURE: 26. 10. - 1. 11. 2012

An integrated map of genetic variation from 1,092 human genomes

"This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual."

http://www.nature.com/nature/journal/v491/n7422/full/nature11632.html

Genetics: Searching for answers

"At Rutgers University in New Brunswick, New Jersey, blood samples from more than 700 people with autism and their families have been carefully collected and tested over the past five years. The DNA from each of the samples |[mdash]| almost 3,000 in total |[mdash]| has been extracted, studied and shared with researchers around the world. And each person with autism whose genes are in the collection has been put through batteries of tests and examinations to characterize their condition. The Simons Simplex Collection, as the set of data is known, is one of the largest |[mdash]| and most comprehensive |[mdash]| of the handful of autism cohorts around the world. But even so, it hasn't given up many of autism's secrets."

http://www.nature.com/nature/journal/v491/n7422_supp/full/491S4a.html

Generation of functional thyroid from embryonic stem cells

"Transient overexpression of the transcription factors NKX2-1 and PAX8 in a murine cell model is shown to direct the differentiation of embryonic stem cells towards a thyroid follicular cell lineage; the resulting three-dimensional thyroid follicles created by subsequent thyrotropin treatment show hallmarks of thyroid function in vitro and rescue thyroid function in vivo when transplanted into athyroid mice, adding to our understanding of the molecular mechanisms underlying thyroid development."

http://www.nature.com/nature/journal/v491/n7422/full/nature11525.html

SCIENCE: Immune Reactions Help Reprogram Cells

"When under threat, it pays to be flexible. That may explain why scientists have been able to use viruses to reprogram differentiated cells into stem cells, an advance that was recognized as part of this year's Nobel Prize in physiology or medicine. A U.S. research team reports that a cell's defensive reaction to viruses seems to make it more open to expressing genes that are usually shut down—whether they trigger inflammation or are active in stem cells. The find could help scientists better understand how cellular reprogramming works, and may also help them develop more efficient and safer ways to reprogram cells."

http://www.sciencemag.org/content/338/6107/590.short