Identifying the causes and consequences of assembly gaps using a multiplatform genome assembly of a bird-of-paradise

Genome assemblies are currently being produced at an impressive rate by consortia and individual laboratories. The low costs and increasing efficiency of sequencing technologies now enable assembling genomes at unprecedented quality and contiguity. However, the difficulty in assembling repeat-rich and GC-rich regions (genomic “dark matter”) limits insights into the evolution of genome structure and regulatory networks. Here, we compare the efficiency of currently available sequencing technologies (short/linked/long reads and proximity ligation maps) and combinations thereof in assembling genomic dark matter. By adopting different de novo assembly strategies, we compare individual draft assemblies to a curated multiplatform reference assembly and identify the genomic features that cause gaps within each assembly. We show that a multiplatform assembly implementing long-read, linked-read and proximity sequencing technologies performs best at recovering transposable elements, multicopy MHC genes, GC-rich microchromosomes and the repeat-rich W chromosome. Telomere-to-telomere assemblies are not a reality yet for most organisms, but by leveraging technology choice it is now possible to minimize genome assembly gaps for downstream analysis. We provide a roadmap to tailor sequencing projects for optimized completeness of both the coding and noncoding parts of nonmodel genomes

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

Dwelling as the life basis of Ukrainians

На прикладі містечок Батурина, Глухова, Борзни та Кролевця у статті розглядається інтер’єр жител населення Чернігово-Сіверщини (друга половина ХVІІІ – середина ХІХ ст.). На основі значного описового матеріалу, стосовно звичаїв і побуту українців, який накопичився в середині і особливо в другій половині ХІХ ст. можна зробити науково-вивірені узагальнення з приводу порівняльної характеристики українців і росіян. Дослідженням цієї теми займалися М. Маркевич, І. Срезнєвський, П. Куліш та ін. Значний внесок до вивчення даної проблематики належить історику М. Костомарову, який виокремив український культурний і традиційно-буттєвий комплекс із загальноросійського, що утрадиційнилось як спільне за понад сторіччя співжиття в рамках однієї імперії. Також у даній статті характеризується поділ оселі на умовні частини та визначаються основні сакральні центри хати. Автор наголошує на глибокому символічному обрядово-ритуальному значенні, яке українці надавали всім предметам хатнього інтер’єру та наголошує на ліричній прив’язаності їх до місця свого проживання.На примере городков Батурина, Глухова, Борзны и Кролевца в статье рассматривается интерьер жилищ населения Чернигово-Северщины во второй половине XVIII – середине XIX вв. На основе материалов, описывающих украинские обычаи и быт, накопившихся в средине, а особенно во второй половине XIX в., можно сделать обобщения по поводу сравнительной характеристики украинцев и русских. Исследованием этой темы занимались Н. Маркевич, И. Срезневский, П. Кулиш и другие ученые. Значительный вклад в изучение данной проблематики принадлежит историку Н. Костомарову, который выделил украинский культурный и традиционно- бытейный комплекс из общероссийского, которые сосуществовали более столетия в границах одной империи. Также в данной статье характеризируется разделение жилища на условные части и определяются основные сакральные центры дома (хаты). Автор отмечает глубокое символическое ритуально-обрядовое значение, которое украинцы придавали всем предметам домашнего интерьера, а также подчеркивает лирическую привязанность населения к месту его проживания.Article deals with the interior of dwellings in Chernihiv-Siverskyi region (in the 2nd half of the ХVІІІ – 1st half of the ХІХ cent.). On the example of towns Baturyn, Glukhiv, Borzna and Krolevets the article deals with the house interiors of the population of Chernihovo-Sivershchyna (the second half of the XVIII – mid. XIX cent.). The analysis is based on considerable descriptive material concerning Ukrainian customs and way of life that has accumulated in the middle and especially in the second half of the XIX cent. and led to scientific adjusted conclusion about the comparative characteristics of Ukrainians and Russians. This topic was researched by M. Markevych, I. Sreznevskyi, P. Kulish and others. A significant contribution to the study of this subject belongs to historian M. Kostomarov, who singled Ukrainian cultural and traditional existential complex out of all-Russian complex, that was considered unified for more than three centuries of coexistence within a single empire. Also, this article characterizes the division of the house on special parts and identifies the main sacred centres of the house. The attention is given to the fact that the Ukrainian housing is associated with many beliefs and rituals. It indicates that the dwelling-house reflects not only people’s ideological and artistic heritage, but also a pragmatic idea. After all, the house seemed a model of nature and the universe, which protected both physically and spiritually. We know that house was not only a place where the family spent most of its life, but it was the family hearth around which ancient and beautiful traditions were preserved. The author emphasizes the deep symbolic ritual value that Ukrainians gave to all subjects of domestic interior and the lyrical attachment to their place of residence. After all, the house had a kind of sacred meaning for its tenants, that is why, to the house and all domestic things people gave some philosophical content. Complexity of representations of the world for humans began from the dwelling and was a dominant through all life. It is revealed that a Ukrainian house with its aesthetic appearance and its interior in particular, is an important factor in the understanding of the Ukrainian people and makes the character unique, and one that is very different from the characteristics of other nations. The author concluded that this topic needs a further study

Functional roles of Aves class-specific cis-regulatory elements on macroevolution of bird-specific features

Unlike microevolutionary processes, little is known about the genetic basis of macroevolutionary processes. One of these magnificent examples is the transition from non-avian dinosaurs to birds that has created numerous evolutionary innovations such as self-powered flight and its associated wings with flight feathers. By analysing 48 bird genomes, we identified millions of avian-specific highly conserved elements (ASHCEs) that predominantly (>99%) reside in non-coding regions. Many ASHCEs show differential histone modifications that may participate in regulation of limb development. Comparative embryonic gene expression analyses across tetrapod species suggest ASHCE-associated genes have unique roles in developing avian limbs. In particular, we demonstrate how the ASHCE driven avian-specific expression of gene Sim1 driven by ASHCE may be associated with the evolution and development of flight feathers. Together, these findings demonstrate regulatory roles of ASHCEs in the creation of avian-specific traits, and further highlight the importance of cis-regulatory rewiring during macroevolutionary changes

Recurrent chromosome reshuffling and the evolution of neo-sex chromosomes in parrots

The karyotype of most birds has remained considerably stable during more than 100 million years’ evolution, except for some groups, such as parrots. The evolutionary processes and underlying genetic mechanism of chromosomal rearrangements in parrots, however, are poorly understood. Here, using chromosome-level assemblies of four parrot genomes, we uncover frequent chromosome fusions and fissions, with most of them occurring independently among lineages. The increased activities of chromosomal rearrangements in parrots are likely associated with parrot-specific loss of two genes, ALC1 and PARP3, that have known functions in the repair of double-strand breaks and maintenance of genome stability. We further find that the fusion of the ZW sex chromosomes and chromosome 11 has created a pair of neo-sex chromosomes in the ancestor of parrots, and the chromosome 25 has been further added to the sex chromosomes in monk parakeet. Together, the combination of our genomic and cytogenetic analyses characterizes the complex evolutionary history of chromosomal rearrangements and sex chromosomes in parrots

Comparative genomics reveals insights into avian genome evolution and adaptation

Birds are the most species-rich class of tetrapod vertebrates and have wide relevance across many research fields. We explored bird macroevolution using full genomes from 48 avian species representing all major extant clades. The avian genome is principally characterized by its constrained size, which predominantly arose because of lineage-specific erosion of repetitive elements, large segmental deletions, and gene loss. Avian genomes furthermore show a remarkably high degree of evolutionary stasis at the levels of nucleotide sequence, gene synteny, and chromosomal structure. Despite this pattern of conservation, we detected many non-neutral evolutionary changes in protein-coding genes and noncoding regions. These analyses reveal that pan-avian genomic diversity covaries with adaptations to different lifestyles and convergent evolution of traits

Two Antarctic penguin genomes reveal insights into their evolutionary history and molecular changes related to the Antarctic environment. GigaScience

Abstract Background: Penguins are flightless aquatic birds widely distributed in the Southern Hemisphere. The distinctive morphological and physiological features of penguins allow them to live an aquatic life, and some of them have successfully adapted to the hostile environments in Antarctica. To study the phylogenetic and population history of penguins and the molecular basis of their adaptations to Antarctica, we sequenced the genomes of the two Antarctic dwelling penguin species, the Adélie penguin [Pygoscelis adeliae] and emperor penguin [Aptenodytes forsteri]. Results: Phylogenetic dating suggests that early penguins arose~60 million years ago, coinciding with a period of global warming. Analysis of effective population sizes reveals that the two penguin species experienced population expansions from~1 million years ago to~100 thousand years ago, but responded differently to the climatic cooling of the last glacial period. Comparative genomic analyses with other available avian genomes identified molecular changes in genes related to epidermal structure, phototransduction, lipid metabolism, and forelimb morphology. Conclusions: Our sequencing and initial analyses of the first two penguin genomes provide insights into the timing of penguin origin, fluctuations in effective population sizes of the two penguin species over the past 10 million years, and the potential associations between these biological patterns and global climate change. The molecular changes compared with other avian genomes reflect both shared and diverse adaptations of the two penguin species to the Antarctic environment