Genome-wide analysis of human long noncoding RNAs: a provocative review

CP Ponting, W Haerty - Annual review of genomics and human …, 2022 - annualreviews.org
Do long noncoding RNAs (lncRNAs) contribute little or substantively to human biology? To
address how lncRNA loci and their transcripts, structures, interactions, and functions …

The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease

T Groza, FL Gomez, HH Mashhadi… - Nucleic acids …, 2023 - academic.oup.com
Abstract The International Mouse Phenotyping Consortium (IMPC; https://www.
mousephenotype. org/) web portal makes available curated, integrated and analysed …

Pleiotropy, epistasis and the genetic architecture of quantitative traits

TFC Mackay, RRH Anholt - Nature Reviews Genetics, 2024 - nature.com
Pleiotropy (whereby one genetic polymorphism affects multiple traits) and epistasis
(whereby non-linear interactions between genetic polymorphisms affect the same trait) are …

Highly enriched BEND3 prevents the premature activation of bivalent genes during differentiation

J Zhang, Y Zhang, Q You, C Huang, T Zhang, M Wang… - Science, 2022 - science.org
Bivalent genes are ready for activation upon the arrival of developmental cues. Here, we
report that BEND3 is a CpG island (CGI)–binding protein that is enriched at regulatory …

CMTM4 is a subunit of the IL-17 receptor and mediates autoimmune pathology

D Knizkova, M Pribikova, H Draberova… - Nature …, 2022 - nature.com
Abstract Interleukin-17A (IL-17A) is a key mediator of protective immunity to yeast and
bacterial infections but also drives the pathogenesis of several autoimmune diseases, such …

Plasmacytoid dendritic cells control homeostasis of megakaryopoiesis

F Gaertner, H Ishikawa-Ankerhold, S Stutte, W Fu… - Nature, 2024 - nature.com
Platelet homeostasis is essential for vascular integrity and immune defence,. Although the
process of platelet formation by fragmenting megakaryocytes (MKs; thrombopoiesis) has …

Genetic determinants of micronucleus formation in vivo

DJ Adams, B Barlas, RE McIntyre, I Salguero… - Nature, 2024 - nature.com
Genomic instability arising from defective responses to DNA damage or mitotic
chromosomal imbalances can lead to the sequestration of DNA in aberrant extranuclear …

Rapid and specific degradation of endogenous proteins in mouse models using auxin-inducible degrons

L Macdonald, GC Taylor, JM Brisbane, E Christodoulou… - Elife, 2022 - elifesciences.org
Auxin-inducible degrons are a chemical genetic tool for targeted protein degradation and
are widely used to study protein function in cultured mammalian cells. Here, we develop …

Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics

CE Hopkins, T Brock, TR Caulfield… - Molecular aspects of …, 2023 - Elsevier
Precision medicine strives for highly individualized treatments for disease under the notion
that each individual's unique genetic makeup and environmental exposures imprints upon …

Obtaining or generating gene mutations in mice

VE Papaioannou, RR Behringer - Cold Spring Harbor …, 2023 - cshprotocols.cshlp.org
The starting point in a mutational analysis of gene function is obtaining or producing a
mutant. Here different methods of obtaining mouse mutants are discussed, including …