Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences

T Gall-Duncan, N Sato, RKC Yuen… - Genome …, 2022 - genome.cshlp.org
Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

Substitutions are boring: some arguments about parallel mutations and high mutation rates

MO Press, AN Hall, EA Morton, C Queitsch - Trends in Genetics, 2019 - cell.com
Extant genomes are largely shaped by global transposition, copy-number fluctuation, and
rearrangement of DNA sequences rather than by substitutions of single nucleotides …

Haplotype mapping uncovers unexplored variation in wild and domesticated soybean at the major protein locus cqProt-003

JI Marsh, H Hu, J Petereit, PE Bayer… - Theoretical and Applied …, 2022 - Springer
Key message The major soy protein QTL, cqProt-003, was analysed for haplotype diversity
and global distribution, and results indicate 304 bp deletion and variable tandem repeats in …

Involvement of isopropylmalate dehydratase in chloroplast development and acylsugar accumulation in tobacco

H Zhang, Q Zheng, G Xu, N Zhai, Z Li, P Zhang… - Industrial Crops and …, 2024 - Elsevier
Isopropylmalate dehydratase (IPDS) is one of the key enzymes in leucine biosynthesis,
which together with valine and isoleucine are classified as branched-chain amino acids …

Natural variation in TBP-ASSOCIATED FACTOR 4b controls meiotic crossover and germline transcription in Arabidopsis

EJ Lawrence, H Gao, AJ Tock, C Lambing… - Current Biology, 2019 - cell.com
Meiotic crossover frequency varies within genomes, which influences genetic diversity and
adaptation. In turn, genetic variation within populations can act to modify crossover …

Effects of trimer repeats on Psidium guajava L. gene expression and prospection of functional microsatellite markers

GP Pires, VS Fioresi, D Canal, DC Canal… - Scientific Reports, 2024 - nature.com
Most research on trinucleotide repeats (TRs) focuses on human diseases, with few on the
impact of TR expansions on plant gene expression. This work investigates TRs' effect on …

RNA-dependent epigenetic silencing directs transcriptional downregulation caused by intronic repeat expansions

H Eimer, S Sureshkumar, AS Yadav… - Cell, 2018 - cell.com
Transcriptional downregulation caused by intronic triplet repeat expansions underlies
diseases such as Friedreich's ataxia. This downregulation of gene expression is coupled …

TRUEE; a bioinformatic pipeline to define the functional microRNA targetome of Arabidopsis

GY Wong, AA Millar - The Plant Journal, 2022 - Wiley Online Library
Central to plant microRNA (miRNA) biology is the identification of functional miRNA‐target
interactions (MTIs). However, the complementarity basis of bioinformatic target prediction …

Parent-of-Origin Effects on Seed Size Modify Heterosis Responses in Arabidopsis thaliana

R Castillo-Bravo, A Fort, R Cashell… - Frontiers in plant …, 2022 - frontiersin.org
Parent-of-origin effects arise when a phenotype depends on whether it is inherited
maternally or paternally. Parent-of-origin effects can exert a strong influence on F1 seed size …

Intronic TNR-Retained Isopropylmalate Isomerase Large Subunit1 transcripts impair leaf development in Arabidopsis

Y Li, R Li, K Kawade, M Sato, A Kuwahara, R Sasaki… - bioRxiv, 2023 - biorxiv.org
Intronic trinucleotide repeat (TNR) is widely distributed in plant genomes. In Arabidopsis
accession Bur-0, abnormally expanded TTC repeat in intron-3 of the ISOPROPYLMALATE …