Differences between human and chimpanzee genomes and their implications in gene expression, protein functions and biochemical properties of the two species

MV Suntsova, AA Buzdin - BMC genomics, 2020 - Springer
… 1.23% of human DNA, whereas more extended deletions and … However, despite of extensive
knowledge of structural genomic … On the other hand, Alu-Alu recombinations had significant …

Alu Elements and Human Disease

H Yang, ME Morales… - … and Human Disease: L1 …, 2023 - books.google.com
… partial deletion of a pseudogene of the 7SL RNA gene likely … , the Alu transcript retains a
similar secondary structure that … bias, genomic comparisons between humans and chimpanzees

Transposable element-mediated rearrangements are prevalent in human genomes

P Balachandran, IA Walawalkar, JI Flores… - Nature …, 2022 - nature.com
… for ectopic DNA repair resulting in structural variant (SV) … is a signature of
recombination-mediated repair as opposed to … that 20% of Alu- and 15% of LINE-1–mediated …

[PDF][PDF] Recombination of repeat elements generates somatic complexity in human genomes

G Pascarella, CC Hon, K Hashimoto, A Busch… - Cell, 2022 - cell.com
… an important contributor to somatic structural variants (SVs) in … sequencing of Alu and L1
elements from genomic DNA To … In this analysis, we also detected a higher rate of deletions

SVA retrotransposons and a Low copy repeat in humans and great apes: A Mobile connection

A Damert - Molecular Biology and Evolution, 2022 - academic.oup.com
… , chimpanzee, gorilla) SVA recombination-mediated integration of a … of the four SVA structural
domains are used: in the Alu-like … repeats are prone to deletion involving NAHR (nonallelic …

A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome

S Mun, S Kim, W Lee, K Kang, TJ Meyer… - … & Molecular Medicine, 2021 - nature.com
deletion candidates associated with LINE-1 and Alu elements… the numbers of deletions
associated with L1 and Alu were 40 … : 131 NAHR-Alu recombination-mediated deletions (ARMDs)…

Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing

GW Cook, MG Benton, W Akerley, GF Mayhew… - PLoS …, 2020 - journals.plos.org
… Hundreds of deletions generated by Alu-Alu recombination … Alu element-based instability
model, we estimated genome … EGFR exon 19 in the human reference genome (hg38), shown in …

… the genomic distribution and potential contribution of retrotransposable elements in relation to their potential impact on genome function and predisposition to human …

RA Ali - 2023 - pearl.plymouth.ac.uk
… B| The structural organisation of a fulllength Alu element. Alus are typically 300 base pairs
(… repeat region, an Alu-like region consisting of two antisense Alu fragments, a variable …

Alu-deletion in Bangladeshi Women: Scopes of Clinical Utility for the Detection of Early Breast Cancer as a Biomarker

GNN Sultana, D Sharmin, I Jahan… - Asian Pacific Journal of …, 2022 - waocp.com
Alu elements of human DNA may result cancer. This study was aimed to find status of Alu-deletion
-insertion mediated deletions (AIMD) or Alu recombination-mediated deletions (ARMD…

[PDF][PDF] Low copy repeats flanking chromosome 22q11. 2 deletion syndrome

L Vervoort - 2022 - lirias.kuleuven.be
… Pathological alterations in the composition or the structure of our DNA … The genome of the
marmoset, a New World monkey, has … to be caused by Alu-Alu mediated rearrangements. This …