Although cohesin-sensitive, long-range enhancer activation is equivalent in nature to proximal activation. Cooperativity can arise from different levels of activation inputs operating on a non-linear response function. @eliasfriman.bsky.social @uoe-igc.bsky.social
www.biorxiv.org/content/10.6...
Sad to hear that Pat Jacob has died aged 91. Pat was a seminal figure in the early days of human genetics. She co-discovered the 1st human chromosome abnormality - XXY Kleinfelter's syndrome in 1959, published contemporaneously with the discovery of trisomy 21 in Down’s syndrome by a French group.
Waiting for reviewer 3
Pot of gold?
Delighted to see this published: H3K115 acetylation is associated with fragile nucleosomes at CpG island promoters and active regulatory sites. Great work from all contributors; Yatendra Kumar, @illingworth-lab.bsky.social @eliasfriman.bsky.social @helink.bsky.social
doi.org/10.7554/eLif...
Nice review of 3D interactions medicated by polycomb. Also worth considering this study showing how such interactions can be rapidly and reversibly disrupted by hexanediol.
www.life-science-alliance.org/content/6/10...
New pre-print identifying 29 Covid GWAS variants that drive allele-specific activity in a functional genomics screen in lung cells, from @gweykopf.bsky.social and
@eliasfriman.bsky.social @simonbiddie.bsky.social
www.biorxiv.org/content/10.6...
@uoe-igc.bsky.social
@uk-fgx.bsky.social
Calling all alumni of the MRC Human Genetics Unit
Join us on Wednesday 23rd Sept to mark the last ever intake of PhD students to the HGU, and to celebrate the achievements of our alumni, and current PhD cohort.
To secure a place, please registerat:
www.eventbrite.co.uk/e/mrc-hgu-ph...
Delighted to see Charlotte "Lotte" Auerbach celebrated in the
@royalsociety.org #WomenInSTEM History map of the UK. First woman to be awarded the Royal Society’s Darwin Medal and an inspirational life history.
royalsociety.org/news-resourc...
We hope you can join us for a fun and inspiring in-person gathering.
New work led by Hasan Cubuk: moving from interpreting variants individually to combining both alleles in recessive disease.
DMS of >8000 ADSL variants → inferred enzyme activity → additive biallelic scores that track patient phenotypes.
Great collab with the Kudla lab!
www.cell.com/cell-systems...
Wendy Bickmore
Wendy Bickmore
Wendy Bickmore
Wendy Bickmore
Wendy Bickmore
Wendy Bickmore
Polycomb repressive complex 1 (PRC1) strongly influences 3D genome organization, mediating local chromatin compaction and clustering of target loci. Several PRC1 subunits have the capacity to form bio...
Recessive diseases arise from the combined effects of two alleles, yet most variant
interpretation methods consider variants individually. Çubuk et al. map more than
8,000 variants in the recessive en...
I had a lot of fun putting this together with @suminkim.bsky.social and @andersshansen.bsky.social! Glad to have had the chance to work on it!
Joe Marsh
Miles Huseyin
Excited to share @suminkim.bsky.social and @mileshuseyin.bsky.social 's new Current Opinion review on how Polycomb complexes mediate 3D genome interactions including mechanistic models and potential roles in gene regulation:
www.sciencedirect.com/science/arti...
