One thousand plant transcriptomes and the phylogenomics of green plants
- James H. Michael S. Eric J. Michael K. Matthew A. Sean W Leebens-Mack Barker Carpenter Deyholos Gitzendanne, J. Leebens-Mack, G. Wong
- Biology, Environmental ScienceNature
- 7 October 2019
It is found that large expansions of gene families preceded the origins of green plants, land plants and vascular plants, whereas whole-genome duplications are inferred to have occurred repeatedly throughout the evolution of flowering plants and ferns.
Recently Formed Polyploid Plants Diversify at Lower Rates
Likelihood-based analyses indicate that polyploids generally exhibit lower speciation rates and higher extinction rates than diploids, providing the first quantitative corroboration of the dead-end hypothesis.
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Mutations in EZH2 cause Weaver syndrome.
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
- M. Demos, C. V. van Karnebeek, J. Friedman
- Psychology, BiologyOrphanet Journal of Rare Diseases
- 28 January 2014
This study shows that an allelic mutation in ATP1A3 produces CAPOS syndrome, a condition previously demonstrated to cause rapid-onset dystonia-parkinsonism or alternating hemiplegia of childhood.
Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma
Targeted re-sequencing identified mutations of MLL2 in 8% of MBs, and found that PRC2-mediated aberrant methylation of H3K27 has recently been targeted for therapy in other diseases, and represents an actionable target for a substantial percentage of medulloblastoma patients with aggressive forms of the disease.
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm
It is shown that a single shared homozygous founder mutation in SGOL1, a component of the cohesin complex, causes CAID syndrome, a new syndrome characterized by Chronic Atrial and Intestinal Dysrhythmia in 16 French Canadians and 1 Sweden.
COVID-19 CG enables SARS-CoV-2 mutation and lineage tracking by locations and dates of interest
- Albert T. Chen, Kevin Altschuler, S. Zhan, Y. A. Chan, Benjamin E. Deverman
- 23 February 2021
Case studies are described in which users can interrogate SNVs in the SARS-CoV-2 spike receptor binding domain (RBD) across different geographical regions to inform the design and testing of therapeutics, and SNVs that may impact the sensitivity of commonly used diagnostic primers.