Interspecific Introgression in Cetaceans: DNA Markers Reveal Post-F1 Status of a Pilot Whale

Visual species identification of cetacean strandings is difficult, especially when dead specimens are degraded and/or species are morphologically similar. The two recognised pilot whale species (Globicephala melas and Globicephala macrorhynchus) are sympatric in the North Atlantic Ocean. These species are very similar in external appearance and their morphometric characteristics partially overlap; thus visual identification is not always reliable. Genetic species identification ensures correct identification of specimens. Here we have employed one mitochondrial (D-Loop region) and eight nuclear loci (microsatellites) as genetic markers to identify six stranded pilot whales found in Galicia (Northwest Spain), one of them of ambiguous phenotype. DNA analyses yielded positive amplification of all loci and enabled species identification. Nuclear microsatellite DNA genotypes revealed mixed ancestry for one individual, identified as a post-F1 interspecific hybrid employing two different Bayesian methods. From the mitochondrial sequence the maternal species was Globicephala melas. This is the first hybrid documented between Globicephala melas and G. macrorhynchus, and the first post-F1 hybrid genetically identified between cetaceans, revealing interspecific genetic introgression in marine mammals. We propose to add nuclear loci to genetic databases for cetacean species identification in order to detect hybrid individuals.

Abundance of baleen whales in the European Atlantic

The abundance of fin whales (Balaenoptera physalus), sei whales (B. borealis) and minke whales (B. acutorostrata) was estimated from data collected during shipboard sightings surveys conducted as part of CODA and TNASS (Faroese block) in July 2007 in offshore waters of the European Atlantic west of the UK, Ireland, France and Spain, combined with data collected from shipboard and aerial surveys of European Atlantic continental shelf waters conducted as part of SCANS-II in July 2005. Double platform methods employing the trial-configuration method (BT-method) were used in all shipboard surveys. Analysis used Mark-Recapture Distance Sampling to account for animals missed on the transect line. Density surface modelling was undertaken to generate model-based abundance estimates and maps of predicted density. Estimates are presented for the SCANS-II and CODA survey areas. Estimates for the Faroese block of TNASS have been presented elsewhere. The abundance of fin whales in the CODA and SCANS-II areas was estimated as 19,354 (CV 0.24) for identified sightings and 29,512 (CV 0.26) when adjusted to include a proportion of unidentified large whale abundance (which included large baleen and sperm whales), prorated by number of sightings, because there were a large number of such sightings in one of the CODA survey blocks. The model-based estimate of identified fin whales was 19,751 (CV 0.17), more precise than the design-based estimate. Fin whales were mainly found in the southern part of the CODA survey area. Estimates based on identified sightings were comparable to those from the Spanish survey conducted as part of 1989 NASS but were larger if adjusted for a proportion of unidentified large whales. Sei whales were rare except in the southwest of the survey area; the estimate of abundance was 619 (CV 0.34) for identified sightings and 765 (CV 0.43) adjusted for a proportion of unidentified large whales. Minke whale abundance was estimated for shelf and offshore European Atlantic waters as 30,410 (CV 0.34). The model-based estimate was less precise and considerably larger

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

Publisher Copyright: © 2023, The Author(s).Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migraine without aura (MO). We identified four new MA-associated variants (in PRRT2, PALMD, ABO and LRRK2) and classified 13 MO-associated variants. Rare variants with large effects highlight three genes. A rare frameshift variant in brain-expressed PRRT2 confers large risk of MA and epilepsy, but not MO. A burden test of rare loss-of-function variants in SCN11A, encoding a neuron-expressed sodium channel with a key role in pain sensation, shows strong protection against migraine. Finally, a rare variant with cis-regulatory effects on KCNK5 confers large protection against migraine and brain aneurysms. Our findings offer new insights with therapeutic potential into the complex biology of migraine and its subtypes.Peer reviewe

Distribution, abundance and habitat use of deep diving cetaceans in the North East Atlantic

In spite of their oceanic habitat, deep diving cetacean species have been found to be affected by anthropogenic activities, with potential population impacts of high intensity sounds generated by naval research and oil prospecting receiving the most attention. Improving the knowledge of the distribution and abundance of this poorly known group is an essential prerequisite to inform mitigation strategies seeking to minimize their spatial and temporal overlap with human activities. We provide for the first time abundance estimates for five deep diving cetacean species (sperm whale, long-finned pilot whale, northern bottlenose whale, Cuvier's beaked whale and Sowerby's beaked whale) using data from three dedicated cetacean sighting surveys that covered the oceanic and shelf waters of the North-East Atlantic. Density surface modelling was used to obtain model-based estimates of abundance and to explore the physical and biological characteristics of the habitat used by these species. Distribution of all species was found to be significantly related to depth, distance from the 2000m depth contour, the contour index (a measure of variability in the seabed) and sea surface temperature. Predicted distribution maps also suggest that there is little spatial overlap between these species. Our results represent the best abundance estimates for deep-diving whales in the North-East Atlantic, predict areas of high density during summer and constitute important baseline information to guide future risk assessments of human activities on these species, evaluate potential spatial and temporal trends and inform EU Directives and future conservation efforts.Postprin

Variants at the Interleukin 1 Gene Locus and Pericarditis

Importance: Recurrent pericarditis is a treatment challenge and often a debilitating condition. Drugs inhibiting interleukin 1 cytokines are a promising new treatment option, but their use is based on scarce biological evidence and clinical trials of modest sizes, and the contributions of innate and adaptive immune processes to the pathophysiology are incompletely understood. Objective: To use human genomics, transcriptomics, and proteomics to shed light on the pathogenesis of pericarditis. Design, Setting, and Participants: This was a meta-analysis of genome-wide association studies of pericarditis from 5 countries. Associations were examined between the pericarditis-associated variants and pericarditis subtypes (including recurrent pericarditis) and secondary phenotypes. To explore mechanisms, associations with messenger RNA expression (cis-eQTL), plasma protein levels (pQTL), and CpG methylation of DNA (ASM-QTL) were assessed. Data from Iceland (deCODE genetics, 1983-2020), Denmark (Copenhagen Hospital Biobank/Danish Blood Donor Study, 1977-2022), the UK (UK Biobank, 1953-2021), the US (Intermountain, 1996-2022), and Finland (FinnGen, 1970-2022) were included. Data were analyzed from September 2022 to August 2023.Genotype. Main Outcomes and Measures: Pericarditis. Results: In this genome-wide association study of 4894 individuals with pericarditis (mean [SD] age at diagnosis, 51.4 [17.9] years, 2734 [67.6%] male, excluding the FinnGen cohort), associations were identified with 2 independent common intergenic variants at the interleukin 1 locus on chromosome 2q14. The lead variant was rs12992780 (T) (effect allele frequency [EAF], 31%-40%; odds ratio [OR], 0.83; 95% CI, 0.79-0.87; P = 6.67 × 10-16), downstream of IL1B and the secondary variant rs7575402 (A or T) (EAF, 45%-55%; adjusted OR, 0.89; 95% CI, 0.85-0.93; adjusted P = 9.6 × 10-8). The lead variant rs12992780 had a smaller odds ratio for recurrent pericarditis (0.76) than the acute form (0.86) (P for heterogeneity = .03) and rs7575402 was associated with CpG methylation overlapping binding sites of 4 transcription factors known to regulate interleukin 1 production: PU.1 (encoded by SPI1), STAT1, STAT3, and CCAAT/enhancer-binding protein β (encoded by CEBPB). Conclusions and Relevance: This study found an association between pericarditis and 2 independent sequence variants at the interleukin 1 gene locus. This finding has the potential to contribute to development of more targeted and personalized therapy of pericarditis with interleukin 1-blocking drugs.</p

Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.

We used an approach that we term ancestry-shift refinement mapping to investigate an association, originally discovered in a GWAS of a Chinese population, between rs2046210[T] and breast cancer susceptibility. The locus is on 6q25.1 in proximity to the C6orf97 and estrogen receptor alpha (ESR1) genes. We identified a panel of SNPs that are correlated with rs2046210 in Chinese, but not necessarily so in other ancestral populations, and genotyped them in breast cancer case:control samples of Asian, European, and African origin, a total of 10,176 cases and 13,286 controls. We found that rs2046210[T] does not confer substantial risk of breast cancer in Europeans and Africans (OR = 1.04, P = 0.099, and OR = 0.98, P = 0.77, respectively). Rather, in those ancestries, an association signal arises from a group of less common SNPs typified by rs9397435. The rs9397435[G] allele was found to confer risk of breast cancer in European (OR = 1.15, P = 1.2 x 10(-3)), African (OR = 1.35, P = 0.014), and Asian (OR = 1.23, P = 2.9 x 10(-4)) population samples. Combined over all ancestries, the OR was 1.19 (P = 3.9 x 10(-7)), was without significant heterogeneity between ancestries (P(het) = 0.36) and the SNP fully accounted for the association signal in each ancestry. Haplotypes bearing rs9397435[G] are well tagged by rs2046210[T] only in Asians. The rs9397435[G] allele showed associations with both estrogen receptor positive and estrogen receptor negative breast cancer. Using early-draft data from the 1,000 Genomes project, we found that the risk allele of a novel SNP (rs77275268), which is closely correlated with rs9397435, disrupts a partially methylated CpG sequence within a known CTCF binding site. These studies demonstrate that shifting the analysis among ancestral populations can provide valuable resolution in association mapping