In a paper published online in advance in Nature this week, an international team led by investigators at Ewha Womans University in Seoul reports its sequencing and anlaysis of the Heterocephalus glaber — naked mole rat — genome. The team says its analysis "reveals unique genome features and molecular adaptations consistent with cancer resistance, poikilothermy, hairlessness and insensitivity to low oxygen, and altered visual function, circadian rythms, and taste sensing." The researchers investigated the naked mole rat genome and transcriptome, unearthing insights into the animal's "exceptional longevity and ability to live in hostile conditions, in the dark and at low oxygen." Daily Scan sister publication GenomeWeb Daily News has more on this study.
In a paper published online in advance this week, an international team led by investigators at the Broad Institute reports a high-resolution map of human evolutionary constraint, which it generated based on the genome sequences of 29 eutherian mammals. The team identifies "220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions," as well as "280,000 non-coding elements exapted from mobile elements and more than 1,000 primate- and human-accelerated elements." Overall, the Broad-led team says overlap among disease-associated variants "indicates that our findings will be relevant for studies of human biology, health and disease."
Also this week, a team led by investigators at the Wellcome Trust Sanger Institute reports that "a combination of zinc finger nucleases and piggyback technology in human iPSCs [induced pluripotent stem cells] can achieve biallelic correction of a point mutation (Glu342Lys) in the α1-antitrypsin (A1AT, also known as SERPINA1) gene that is responsible for α1-antitrypsin deficiency." Further, the team shows that such "genetic correction of human iPSCs restored the structure and function of A1AT in subsequently derived liver cells in vitro and in vivo."