Caitlin N. Jacques
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Caitlin N. Jacques has a total of 46 co-authors. Here are the top co-authors by number of shared publications:
- Adriana Estela Sedeño Cortés
Division of Medical Genetics, University of Washington
1 shared publication - Akira Iwase
RIKEN Center for Sustainable Resource Science , Yokohama 230-0045
1 shared publication - Andrew Stergachis
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA
1 shared publication - Anna Minkina
Department of Genome Sciences, University of Washington
1 shared publication Brianne Carroll
1 shared publication- Chia-Lin Wei
The Jackson Laboratory for Genomic Medicine, Farmington, USA
1 shared publication
Latest Publications
- Open Access
A telomere-to-telomere map of somatic mutation burden and functional impact in cancer
Oncogenesis involves widespread genetic and epigenetic alterations, yet the full spectrum of somatic variation genome-wide remains unresolved. We generated a near-telomere-to-telomere (T2T) diploid assembly of a donor paired with deep short- and long-read sequencing of their melanoma. This revealed that 16% of somatic variants occur in sequences absent from GRCh38, with satellite repeats acting as hotspots for UV-induced damage due to sequence-intrinsic mutability and inefficient repair. Centromere kinetochore domains emerged as focal sites of structural, genetic, and epigenetic variation, leading to remodeling of centromere kinetochore binding domains during tumor evolution. Single-molecule telomere reconstructions uncovered cycles of attrition, deletion, and telomerase-mediated extension that shape cancer telomeres. Finally, diploid chromatin maps exposed that copy number alterations and epimutations, rather than point mutations, predominate in rewiring cancer regulatory programs. These findings define the full landscape of a cancer’s somatic variation and their functional impact, establishing a blueprint for T2T studies of mosaicism.
Open AccessA telomere-to-telomere map of somatic mutation burden and functional impact in cancer
Oncogenesis involves widespread genetic and epigenetic alterations, yet the full spectrum of somatic variation genome-wide remains unresolved. We generated a near-telomere-to-telomere (T2T) diploid assembly of a donor paired with deep short- and long-read sequencing of their melanoma. This revealed that 16% of somatic variants occur in sequences absent from GRCh38, with satellite repeats acting as hotspots for UV-induced damage due to sequence-intrinsic mutability and inefficient repair. Centromere kinetochore domains emerged as focal sites of structural, genetic, and epigenetic variation, leading to remodeling of centromere kinetochore binding domains during tumor evolution. Single-molecule telomere reconstructions uncovered cycles of attrition, deletion, and telomerase-mediated extension that shape cancer telomeres. Finally, diploid chromatin maps exposed that copy number alterations and epimutations, rather than point mutations, predominate in rewiring cancer regulatory programs. These findings define the full landscape of a cancer’s somatic variation and their functional impact, establishing a blueprint for T2T studies of mosaicism.
- Open Access
- 24 June 2016
- Published by Oxford University Press (OUP) in Plant Physiology
- Vol. 171 (4) , 2701-2716
SUPPRESSOR OF PHYTOCHROME B4-#3 Represses Genes Associated with Auxin Signaling to Modulate Hypocotyl Growth
SOB3 modulates seedling elongation by repressing the expression of genes associated with auxin signaling.
- 24 June 2016
- Published by Oxford University Press (OUP) in Plant Physiology
- Vol. 171 (4) , 2701-2716
Open AccessSUPPRESSOR OF PHYTOCHROME B4-#3 Represses Genes Associated with Auxin Signaling to Modulate Hypocotyl Growth
SOB3 modulates seedling elongation by repressing the expression of genes associated with auxin signaling.