Dynamic alternative DNA structures in biology and disease

G Wang, KM Vasquez - Nature Reviews Genetics, 2023 - nature.com
Repetitive elements in the human genome, once considered 'junk DNA', are now known to
adopt more than a dozen alternative (that is, non-B) DNA structures, such as self-annealed …

[HTML][HTML] Noncanonical DNA structures are drivers of genome evolution

KD Makova, MH Weissensteiner - Trends in Genetics, 2023 - cell.com
In addition to the canonical right-handed double helix, other DNA structures, termed 'non-B
DNA', can form in the genomes across the tree of life. Non-B DNA regulates multiple cellular …

The complete sequence of a human genome

S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze… - Science, 2022 - science.org
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …

Critical assessment of DNA adenine methylation in eukaryotes using quantitative deconvolution

Y Kong, L Cao, G Deikus, Y Fan, EA Mead, W Lai… - Science, 2022 - science.org
The discovery of N6-methyldeoxyadenine (6mA) across eukaryotes led to a search for
additional epigenetic mechanisms. However, some studies have highlighted confounding …

[PDF][PDF] De novo assembly of 20 chicken genomes reveals the undetectable phenomenon for thousands of core genes on microchromosomes and subtelomeric regions

M Li, C Sun, N Xu, P Bian, X Tian… - Molecular biology …, 2022 - academic.oup.com
The gene numbers and evolutionary rates of birds were assumed to be much lower than
those of mammals, which is in sharp contrast to the huge species number and …

Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assemblies

AM Mc Cartney, K Shafin, M Alonge, AV Bzikadze… - Nature …, 2022 - nature.com
Advances in long-read sequencing technologies and genome assembly methods have
enabled the recent completion of the first telomere-to-telomere human genome assembly …

Non-B DNA: a major contributor to small-and large-scale variation in nucleotide substitution frequencies across the genome

WM Guiblet, MA Cremona, RS Harris… - Nucleic Acids …, 2021 - academic.oup.com
Approximately 13% of the human genome can fold into non-canonical (non-B) DNA
structures (eg G-quadruplexes, Z-DNA, etc.), which have been implicated in vital cellular …

Navigating the pitfalls of mapping DNA and RNA modifications

Y Kong, EA Mead, G Fang - Nature Reviews Genetics, 2023 - nature.com
Chemical modifications to nucleic acids occur across the kingdoms of life and carry
important regulatory information. Reliable high-resolution mapping of these modifications is …

Intragenomic rDNA variation-the product of concerted evolution, mutation, or something in between?

W Wang, X Zhang, S Garcia, AR Leitch, A Kovařík - Heredity, 2023 - nature.com
The classical model of concerted evolution states that hundreds to thousands of ribosomal
DNA (rDNA) units undergo homogenization, making the multiple copies of the individual …

Identifying the causes and consequences of assembly gaps using a multiplatform genome assembly of a bird‐of‐paradise

V Peona, MPK Blom, L Xu, R Burri… - Molecular ecology …, 2021 - Wiley Online Library
Genome assemblies are currently being produced at an impressive rate by consortia and
individual laboratories. The low costs and increasing efficiency of sequencing technologies …