Microhomologies are prevalent at Cas9-induced larger deletions

DDG Owens, A Caulder, V Frontera… - Nucleic acids …, 2019 - academic.oup.com
… Cas9 nuclease (derived from Streptococcus pyogenes) … ) polymerase chain reaction (PCR)
and Sanger sequencing (8,9). … examined what other factors might influence LD formation. At …

[HTML][HTML] Allele-specific chromosome removal after Cas9 cleavage in human embryos

MV Zuccaro, J Xu, C Mitchell, D Marin, R Zimmerman… - Cell, 2020 - cell.com
… for the mutant allele, we derived two embryonic stem cell (ESC) … Although this does not rule
out all deletions, deletions of a few … a translocation would affect two or more chromosomes. …

Chromosome 22q11. 2 deletion syndrome and DiGeorge syndrome

KE Sullivan - Immunological Reviews, 2019 - Wiley Online Library
… of de novo deletions do not seem to have a major impact.51 … acid is a diffusible
mesenchymal-derived signal that influences … repertoire diminish the diversity of potential …

[HTML][HTML] EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

MC Martínez-Romero, MJ Ballesta-Martínez… - Orphanet Journal of …, 2019 - Springer
result in less severe signs of HED and nearly normal sweating. In the patients with these
variants, the in-frame deletion … polymerase slippage but would not affect the multimerization and …

Radiotherapy is associated with a deletion signature that contributes to poor outcomes in patients with cancer

E Kocakavuk, KJ Anderson, FS Varn, KC Johnson… - Nature …, 2021 - nature.com
… We assessed the impact of RT and/or TMZ on the somatic … We evaluated whole-genome
sequencing-derived mutational … This work extends our knowledge on the genomic response

[HTML][HTML] MACHETE identifies interferon-encompassing chromosome 9p21. 3 deletions as mediators of immune evasion and metastasis

FM Barriga, KM Tsanov, YJ Ho, N Sohail, A Zhang… - Nature Cancer, 2022 - nature.com
… To dissect the mechanisms by which 4C4 deletions influence PDAC phenotypes, we performed
RNA-… Analysis of an experimentally derived type I IFN response signature (Methods and …

Immune evasion in HPV head and neck precancer–cancer transition is driven by an aneuploid switch involving chromosome 9p loss

WN William Jr, X Zhao, JJ Bianchi… - Proceedings of the …, 2021 - National Acad Sciences
… suppression, but deletion of the entire arm was necessary to … evaluated CN influence on
immune profiles and outcomes in … response and resistance to immunotherapy include deletion

Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing

ML Leibowitz, S Papathanasiou, PA Doerfler… - Nature …, 2021 - nature.com
… genome editing can cause local DNA rearrangements and deletions up to several … , we did
not detect LOH that would be suggestive of chromothripsis in hematopoietic colonies derived

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental …

…, L Faivre, B Gilbert-Dussardier, AM Guerrot… - Journal of Medical …, 2019 - jmg.bmj.com
was defined by the presence of blunt ends, small deletions … breakpoint of derivative 1 and
to the breakpoint of derivative 14, … We then explored the general impact of breakpoints on the …

Somatic genetic rescue in Mendelian haematopoietic diseases

P Revy, C Kannengiesser, A Fischer - Nature Reviews Genetics, 2019 - nature.com
chromosome loss (that is, an interstitial or terminal deletion) … has consequences specific to
T cell fate and does not affect … and possibly antigen-specific responses 129 . In the context of …