Over 7,000 novel translated sequences have been identified from human cells, including several hundred in annotated noncoding RNA, pseudogenes and de novo assembled transcripts.
C David Wood, Hildegonda Veenstra ... Michelle J West
Epstein-Barr virus controls B-cell growth and survival through large-scale reorganization of the enhancers of the MYC and BCL2L11 genes, and may promote MYC translocations as a result.
Genomics-based evidence support population- and sex-specific selection of an epistatic interaction between genetic variants in ADCY9 and CETP, genes of pharmacogenetic importance in cardiovascular diseases.
Convergent transcription and stalling of transcription are enriched at DNA breakpoints found in acute lymphoblastic leukemia and associate with DNA structures and sequences that mediate genetic instability.
Stephanie M Yan, Rachel M Sherman ... Rajiv C McCoy
Graph genotyping of structural variation in diverse human populations reveals functional associations and signatures of local adaptation within poorly resolved regions of the genome.
Human cell lines regress to become ‘de-sexualized’ by reconfiguring to a 2:3 X/A ratio of high fitness, thus shedding light on the evolution of mammalian sex chromosomes.
Lipid efflux by the retinal pigment epithelium is crucial for proper retinal integrity and function, and its impairment may contribute to diseases like age-related macular degeneration.
Systematic analyses of natural variants and artificial mutants establish functional landscapes of BRCA1 for homology-directed repair (HDR) and therapy resistance and identify the BRCA1-PALB2 interaction as a key control point for HDR pathway choice.
