Sex differences in cervical disc height and neck muscle activation during manipulation of external load from helmets

Neck pain associated with helmet‐wear is an occupational health problem often observed in helicopter pilots and aircrew. Whether aircrew helmet wearing is associated with physiological and biomechanical differences between sexes is currently unknown. This study investigated neuromuscular activation patterns during different helmet‐wearing conditions. The helmet load was manipulated through a novel Helmet Balancing System (HBS) in healthy, non‐pilot male and female participants (n = 10 each, age 19–45 years) in two phases. Phase A assessed the acute effects of helmet‐wear on neck muscles activation during head movements. Phase B examined changes in muscle activity and cervical disc height after wearing a helmet for 45 min. In Phase A, muscle activity was similar between sexes in many movements, but it was higher in female participants when wearing a helmet than in males. The HBS reduced muscle activity in both sexes. In Phase B, female participants exhibited a greater level of muscular fatigue, and male participants’ cervical disc height was significantly decreased [5.7 (1.4) vs. 4.4 (1.5) mm, P < 0.001] after continuous wearing. Both sexes showed no significant change in muscle fatigue and disc height [male: 5.0 (1.3) vs. 5.2 (1.4) mm, P = 0.604] after applying HBS. These findings demonstrate sex‐specific physiological and biomechanical responses to wearing a helmet. They may indicate different postural and motor control strategies, associated with different neck pain aetiologies in male and female aircrew, the knowledge of which is important to reduce or prevent musculoskeletal injuries associated with helmet wearing. Highlights: What is the central question of this study? Do sex differences exist in the neck physiological response to helmet‐wearing? What is the main finding and its importance? Sex differences exist in both the acute response and after 45 min of helmet wearing: during a given head movement, female participants’ muscle activity was greater than male participants’ and females also demonstrated greater muscular fatigue after continuous helmet‐wear than males while cervical disc height showed a significant reduction after 45 min helmet‐wear in males only. These findings could provide insight into future training or injury prevention strategy for pilots

The era of reference genomes in conservation genomics

Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate reference genomes representing global biodiversity. These genomes provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses of population and functional genomics, and are expected to revolutionize conservation genomics.Peer reviewe

Widespread false gene gains caused by duplication errors in genome assemblies

Abstract Background False duplications in genome assemblies lead to false biological conclusions. We quantified false duplications in popularly used previous genome assemblies for platypus, zebra finch, and Annas Hummingbird, and their new counterparts of the same species generated by the Vertebrate Genomes Project, of which the Vertebrate Genomes Project pipeline attempted to eliminate false duplications through haplotype phasing and purging. These assemblies are among the first generated by the Vertebrate Genomes Project where there was a prior chromosomal level reference assembly to compare with. Results Whole genome alignments revealed that 4 to 16% of the sequences are falsely duplicated in the previous assemblies, impacting hundreds to thousands of genes. These lead to overestimated gene family expansions. The main source of the false duplications is heterotype duplications, where the haplotype sequences were relatively more divergent than other parts of the genome leading the assembly algorithms to classify them as separate genes or genomic regions. A minor source is sequencing errors. Ancient ATP nucleotide binding gene families have a higher prevalence of false duplications compared to other gene families. Although present in a smaller proportion, we observe false duplications remaining in the Vertebrate Genomes Project assemblies that can be identified and purged. Conclusions This study highlights the need for more advanced assembly methods that better separate haplotypes and sequence errors, and the need for cautious analyses on gene gains

A pangenome graph reference of 30 chicken genomes allows genotyping of large and complex structural variants

Background The red junglefowl, the wild outgroup of domestic chickens, has historically served as a reference for genomic studies of domestic chickens. These studies have provided insight into the etiology of traits of commercial importance. However, the use of a single reference genome does not capture diversity present among modern breeds, many of which have accumulated molecular changes due to drift and selection. While reference-based resequencing is well-suited to cataloging simple variants such as single-nucleotide changes and short insertions and deletions, it is mostly inadequate to discover more complex structural variation in the genome. Methods We present a pangenome for the domestic chicken consisting of thirty assemblies of chickens from different breeds and research lines. Results We demonstrate how this pangenome can be used to catalog structural variants present in modern breeds and untangle complex nested variation. We show that alignment of short reads from 100 diverse wild and domestic chickens to this pangenome reduces reference bias by 38%, which affects downstream genotyping results. This approach also allows for the accurate genotyping of a large and complex pair of structural variants at the K feathering locus using short reads, which would not be possible using a linear reference. Conclusions We expect that this new paradigm of genomic reference will allow better pinpointing of exact mutations responsible for specific phenotypes, which will in turn be necessary for breeding chickens that meet new sustainability criteria and are resilient to quickly evolving pathogen threats

Evolution and genetic architecture of sex-limited polymorphism in cuckoos

Sex-limited polymorphism has evolved in many species including our own. Yet, we lack a detailed understanding of the underlying genetic variation and evolutionary processes at work. The brood parasitic common cuckoo (Cuculus canorus) is a prime example of female-limited color polymorphism, where adult males are monochromatic gray and females exhibit either gray or rufous plumage. This polymorphism has been hypothesized to be governed by negative frequency-dependent selection whereby the rarer female morph is protected against harassment by males or from mobbing by parasitized host species. Here, we show that female plumage dichromatism maps to the female-restricted genome. We further demonstrate that, consistent with balancing selection, ancestry of the rufous phenotype is shared with the likewise female dichromatic sister species, the oriental cuckoo (Cuculus optatus). This study shows that sex-specific polymorphism in trait variation can be resolved by genetic variation residing on a sex-limited chromosome and be maintained across species boundaries

The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica)

The barn swallow (Hirundo rustica) poses a number of fascinating scientific questions, including the taxonomic status of postulated subspecies. Here, we obtained and assessed the sequence variation of 411 complete mitogenomes, mainly from the European H. r. rustica, but other subspecies as well. In almost every case, we observed subspecies-specific haplogroups, which we employed together with estimated radiation times to postulate a model for the geographical and temporal worldwide spread of the species. The female barn swallow carrying the Hirundo rustica ancestral mitogenome left Africa (or its vicinity) around 280 thousand years ago (kya), and her descendants expanded first into Eurasia and then, at least 51 kya, into the Americas, from where a relatively recent (&lt;20 kya) back migration to Asia took place. The exception to the haplogroup subspecies specificity is represented by the sedentary Levantine H. r. transitiva that extensively shares haplogroup A with the migratory European H. r. rustica and, to a lesser extent, haplogroup B with the Egyptian H. r. savignii. Our data indicate that rustica and transitiva most likely derive from a sedentary Levantine population source that split at the end of the Younger Dryas (YD) (11.7 kya). Since then, however, transitiva received genetic inputs from and admixed with both the closely related rustica and the adjacent savignii. Demographic analyses confirm this species' strong link with climate fluctuations and human activities making it an excellent indicator for monitoring and assessing the impact of current global changes on wildlife

The era of reference genomes in conservation genomics

Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate reference genomes representing global biodiversity. These genomes provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses of population and functional genomics, and are expected to revolutionize conservation genomics

Open Institute of the African BioGenome Project: Bridging the gap in African biodiversity genomics and bioinformatics

Africa, a continent of 1.3 billion people, had 326 researchers per one million people in 2018 (Schneegans, 2021; UNESCO, 2022), despite the global average for the number of researchers per million people being 1368 (Schneegans, 2021; UNESCO, 2022). Nevertheless, a strong research community is a requirement to advance scientific knowledge and innovation and drive economic growth (Agnew, et al., 2020; Sianes, et al., 2022). This low number of researchers extends to scientific research across Africa and finds resonance with genomic projects such as the African BioGenome Project (Ebenezer, et al., 2022). The African BioGenome project (AfricaBP) plans to sequence 100,000 endemic African species in 10 years (Ebenezer, et al., 2022) with an estimated 203,000 gigabases of DNA sequence. AfricaBP aims to generate these genomes on-the-ground in Africa. However, for AfricaBP to achieve its goals of on-the-ground sequencing and data analysis, there is a need to empower African scientists and institutions to obtain the required skill sets, capacity and infrastructure to generate, analyse, and utilise these sequenced genomes in-country. The Open Institute is the genomics and bioinformatics knowledge exchange programme for the AfricaBP (Figures 1 &amp; 2). It consists of 10 participating institutions including the University of South Africa in South Africa and National Institute of Agricultural Research in Morocco. It aims to: develop biodiversity genomics and bioinformatics curricula targeted at African scientists, promote and develop genomics and bioinformatics tools that will address critical needs relevant to the African terrain such as limited internet access, and advance grassroot knowledge exchange through outreach and public engagement such as quarterly training and workshops