Inversions are thought to play a key role in adaptation and speciation, suppressing recombination between diverging populations. Genes influencing adaptive traits cluster in inversions, and changes in inversion frequencies are associated with environmental differences. However, in many organisms, it is unclear if inversions are geographically and taxonomically widespread. The intertidal snail, Littorina saxatilis, is one such example. Strong associations between putative polymorphic inversions and phenotypic differences have been demonstrated between two ecotypes of L. saxatilis in Sweden and inferred elsewhere, but no direct evidence for inversion polymorphism currently exists across the species range. Using whole genome data from 107 snails, most inversion polymorphisms were found to be widespread across the species range. The frequencies of some inversion arrangements were significantly different among ecotypes, suggesting a parallel adaptive role. Many inversions were also polymorphic in the sister species, L. arcana, hinting at an ancient origin.
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http://dx.doi.org/10.1111/mec.17160 | DOI Listing |
Evol Appl
January 2025
Save Our Seas Foundation Shark Research Center, Halmos College of Arts & Sciences Nova Southeastern University Dania Florida USA.
Large-bodied pelagic sharks are key regulators of oceanic ecosystem stability, but highly impacted by severe overfishing. One such species, the shortfin mako shark (), a globally widespread, highly migratory predator, has undergone dramatic population reductions and is now Endangered (IUCN Red List), with Atlantic Ocean mako sharks in particular assessed by fishery managers as overfished and in need of urgent, improved management attention. Genomic-scale population assessments for this apex predator species have not been previously available to inform management planning; thus, we investigated the population genetics of mako sharks across the Atlantic using a bi-organelle genomics approach.
View Article and Find Full Text PDFBackground: The treatment and control of malaria in Africa is challenged by drug resistance, including transporter, folate pathway, and PfK13 mutations that mediate resistance to aminoquinolines, antifolates, and artemisinins, respectively. Characterization of drug susceptibility informs optimal control strategies.
Methods: We characterized ex vivo susceptibilities to nine drugs of isolates collected from individuals presenting with uncomplicated falciparum malaria in eastern (2019-2024) and northern (2021-2024) Uganda using a growth inhibition assay and the dihydroartemisinin (DHA) ring survival assay (RSA).
Medicine (Baltimore)
January 2025
Reproductive Medicine Center, Yulin Maternal and Child Health Care Hospital, Yulin, Guangxi, China.
Rationale: This study investigates the genetic cause of primary infertility and short stature in a woman, focusing on maternal X chromosome pericentric inversion and its impact on offspring genetic outcomes, including deletions at Xp22.33 and Xp22.33p11.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
Methods: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree.
bioRxiv
December 2024
Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
Inactivation of disease alleles by allele-specific editing is a promising approach to treat dominant-negative genetic disorders, provided the causative gene is haplo-sufficient. We previously edited a dominant missense mutation with inactivating frameshifts and rescued disease-relevant phenotypes in induced pluripotent stem cell (iPSC)-derived motor neurons. However, a multitude of different missense mutations cause disease.
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