Featured
-
-
Article
| Open AccessA previously uncharacterized Factor Associated with Metabolism and Energy (FAME/C14orf105/CCDC198/1700011H14Rik) is related to evolutionary adaptation, energy balance, and kidney physiology
The human genome still contains numerous uncharacterized genes. Here, the authors identify a fast evolving Factor associated with Metabolism and Energy (FAME) that is associated with altered body weight, energy expenditure, and metabolism and study its function in knockout mouse models.
- Julian Petersen
- , Lukas Englmaier
- & Igor Adameyko
-
Article
| Open AccessCell-specific alterations in Pitx1 regulatory landscape activation caused by the loss of a single enhancer
Developmental genes are frequently controlled by multiple enhancers sharing similar specificities, so deletions of such regulatory elements often fail to reveal their full function. Here the authors use the Pitx1 testbed locus to characterize the regulatory and cellular identity alterations following the deletion in vivo of one of its enhancers.
- Raquel Rouco
- , Olimpia Bompadre
- & Guillaume Andrey
-
Article
| Open AccessBRCA1-associated structural variations are a consequence of polymerase theta-mediated end-joining
Cancer mutational signatures have been associated with defects in genome maintenance pathways. Here the authors, by using a worm germline mutagenesis model defective of human orthologue BRCA-1, identify polymerase theta-mediated end-joining (TMEJ) as causing the BRCAness mutational signature.
- J. A. Kamp
- , R. van Schendel
- & M. Tijsterman
-
Article
| Open AccessPhotoactivatable Cre recombinase 3.0 for in vivo mouse applications
Previous versions of photoactivatable Cre recombinase (PA-Cre) suffered from unintentional recombination in dark conditions. Here, the authors develop an improved version of PA-Cre, called PA-Cre 3.0, which shows reduced leakiness and improved efficiency upon activation, and make mouse lines that express PA-Cre 3.0 conditionally.
- Kumi Morikawa
- , Kazuhiro Furuhashi
- & Masayuki Yazawa
-
Article
| Open AccessSynthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia
Studies with patient derived xenografts are hampered by factors such as genetic variability and sample availability. Here, the authors generate a leukemia mouse model by lentiviral transduction of normal human cord blood and show an oncogenic role of HOXB genes.
- Manabu Kusakabe
- , Ann Chong Sun
- & Andrew P. Weng
-
Article
| Open AccessTrisomy silencing by XIST normalizes Down syndrome cell pathogenesis demonstrated for hematopoietic defects in vitro
Individuals with Down Syndrome have hematopoietic abnormalities including high risk of leukaemia. Here the authors show that transcriptional silencing of one chromosome 21 by XIST effectively corrects cell function and development to prevent excessive production of megakaryocytes and erythroids, shown during hematopoietic differentiation of human iPSCs in culture.
- Jen-Chieh Chiang
- , Jun Jiang
- & Jeanne B. Lawrence
-
Article
| Open AccessComplex disease and phenotype mapping in the domestic dog
The domestic dog is an important model organism for our understanding of cancer and other diseases. Here the authors conduct a genome-wide association study across multiple breeds and identify novel loci significantly associated with several complex diseases and morphological traits.
- Jessica J. Hayward
- , Marta G. Castelhano
- & Adam R. Boyko
-
Article |
The neural circuits and sensory channels mediating harsh touch sensation in Caenorhabditis elegans
The mechanisms by which animals distinguish between harsh and gentle touch are unclear. UsingCaenorhabditis elegansas a model system, the authors identify neural circuits and touch-sensitive ion channels that are required for harsh touch sensation.
- Wei Li
- , Lijun Kang
- & X.Z. Shawn Xu