User profiles for Anouk M. Olthof

Anouk M. Olthof

Verified email at uconn.edu
Cited by 201

Transcription-coupled nucleotide excision repair and the transcriptional response to UV-induced DNA damage

N Nieto Moreno, AM Olthof… - Annual Review of …, 2023 - annualreviews.org
Ultraviolet (UV) irradiation and other genotoxic stresses induce bulky DNA lesions, which
threaten genome stability and cell viability. Cells have evolved two main repair pathways to …

[HTML][HTML] Minor intron splicing revisited: identification of new minor intron-containing genes and tissue-dependent retention and alternative splicing of minor introns

AM Olthof, KC Hyatt, RN Kanadia - BMC genomics, 2019 - Springer
Background Mutations in minor spliceosome components such as U12 snRNA (cerebellar
ataxia) and U4atac snRNA (microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1…

Minor spliceosome inactivation causes microcephaly, owing to cell cycle defects and death of self-amplifying radial glial cells

M Baumgartner, AM Olthof, GS Aquino… - …, 2018 - journals.biologists.com
Mutation in minor spliceosome components is linked to the developmental disorder microcephalic
osteodysplastic primordial dwarfism type 1 (MOPD1). Here, we inactivated the minor …

Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns

AM Olthof, AK White, S Mieruszynski… - Nucleic acids …, 2021 - academic.oup.com
Vertebrate genomes contain major (>99.5%) and minor (<0.5%) introns that are spliced by
the major and minor spliceosomes, respectively. Major intron splicing follows the exon-…

[HTML][HTML] Introns: the “dark matter” of the eukaryotic genome

KN Girardini, AM Olthof, RN Kanadia - Frontiers in Genetics, 2023 - frontiersin.org
The emergence of introns was a significant evolutionary leap that is a major distinguishing
feature between prokaryotic and eukaryotic genomes. While historically introns were …

The emerging significance of splicing in vertebrate development

AM Olthof, AK White, RN Kanadia - Development, 2022 - journals.biologists.com
Splicing is a crucial regulatory node of gene expression that has been leveraged to expand
the proteome from a limited number of genes. Indeed, the vast increase in intron number that …

Disrupted minor intron splicing is prevalent in Mendelian disorders

AM Olthof, JS Rasmussen… - … Genetics & Genomic …, 2020 - Wiley Online Library
Background Splicing is crucial for proper gene expression, and is predominately executed
by the major spliceosome. Conversely, 722 introns in 699 human minor intron‐containing …

Minor intron–containing genes as an ancient backbone for viral infection?

S Wuchty, AK White, AM Olthof, K Drake, AJ Hume… - PNAS …, 2024 - academic.oup.com
Minor intron–containing genes (MIGs) account for <2% of all human protein–coding genes
and are uniquely dependent on the minor spliceosome for proper excision. Despite their low …

Taxonomy of introns, their evolution, and the role of minor introns in stress response

AM Olthof, CF Schwoerer, AL Weber, I Arokiadhas… - bioRxiv, 2022 - biorxiv.org
Despite the high conservation of minor introns across eukaryotic supergroups, specific
lineages have completely lost minor intron splicing, which has raised questions about their …

Oxytocin signaling regulates the homeostatic response to cold stress in poikilothermic vertebrates

A Segev-Hadar, S Krispin, AM Olthof, KC Hyatt… - BioRxiv, 2021 - biorxiv.org
When exposed to low temperature, homeothermic vertebrates maintain internal body
temperature by activating thermogenesis and by altered metabolism, synchronized by …