Hideo Tsubouchi,Hiroshi Iwasaki
Hideo Tsubouchi
BRCA2 is a central mediator of Rad51-dependent homologous recombination in humans. Its apparent absence from model yeasts long suggested that BRCA2 was restricted to higher eukaryotes. However, the identification of BRCA2 homologs across di...
Qingyun Liu,Liang-Dong Lyu
Qingyun Liu
Antibiotic response phenotypes have traditionally been classified as either sensitive or resistant. However, accumulating evidence indicates that bacterial responses to antibiotics are far more heterogeneous than previously appreciated. A g...
Rebecca C Simpson,Harry B Cutler,David E James et al.
Rebecca C Simpson et al.
Here, we discuss emerging studies that have identified overlap in the genetic drivers of the gut microbiome and metabolic disease, and we evaluate the possibility that some genes affecting host metabolic function do so by first manipulating...
Elad Dvir,Eran Meshorer,Sagiv Shifman
Elad Dvir
With the advent of sequencing technologies in recent years, hundreds of high-confidence risk genes have been implicated in neurodevelopmental disorders (NDDs). However, individuals carrying pathogenic variants in the same gene frequently ex...
Multiancestry, tissue-specific genetics inform type 2 diabetes etiology [0.03%]
多祖先、组织特异性遗传学有助于2型糖尿病病因研究
Shiu Lun Au Yeung,Gabriel Chun Yin Sung,Ronald Ching Wan Ma
Shiu Lun Au Yeung
Recent work by Bocher et al. used Mendelian randomization to identify hundreds of gene expressions and multiple proteins that likely play a causal role in type 2 diabetes. The study emphasized the importance of ancestry and tissue-specific ...
Songtao Jia
Songtao Jia
Epigenetic inheritance ensures the transmission of chromatin states through cell division, despite the dilution of parental histones during DNA replication. Recent studies reveal that inheritance is not a passive process but instead involve...
Merel Stemerdink,Dalila Capasso,Munevver Burcu Cicekdal
Merel Stemerdink
A landmark study by Quinodoz et al. revealed that variants in noncoding small nuclear RNA genes, RNU4-2 and four RNU6 paralogs, represent a previously unrecognized cause of autosomal dominant retinitis pigmentosa. This uncovers pleiotropy i...
Victor A Albert,Laura Ávila Robledillo,Steven J Fleck et al.
Victor A Albert et al.
Carnivorous plants are a paradigm of convergent evolution, yet their genomes reveal even deeper layers of complexity. Recent work has revealed widespread polyploidy in carnivorous plants, including the decaploid East Asian pitcher plant Nep...
Data biases in genomics [0.03%]
基因组学中的数据偏差
Lusine Nazaretyan,Martin Kircher
Lusine Nazaretyan
Machine learning (ML) is developing into an inherent part of genomic research due to the ever-increasing amounts of genomic data. However, data-driven algorithms are strongly dependent on good quality and representative data, which can be p...
When loss is gain: truncating mutations in additional sex combs (ASXL) gene family in cancer and neurodevelopment [0.03%]
损失即收获：额外性别梳同系物（ASXL）基因家族截短突变在癌症和神经发育中的作用
Yuji Nakamura,Toan Nguyen,Nofar Mor et al.
Yuji Nakamura et al.
The human ASXL gene family consists of ASXL1, ASXL2, and ASXL3, first described as the additional sex combs (Asx) in Drosophila. The encoded proteins scaffold BAP1-mediated histone H2A deubiquitination. ASXL genes are implicated in pre-canc...