Introductory Editorial: Evolutionary Genomics

This supplement is intended to focus on evolutionary genomics. Evolutionary Bioinformatics aims to provide researchers working in this complex, quickly developing field with online, open access to highly relevant scholarly articles by leading international researchers. In a field where the literature is ever-expanding, researchers increasingly need access to up-to-date, high quality scholarly articles on areas of specific contemporary interest. This supplement aims to address this by presenting high-quality articles that allow readers to distinguish the signal from the noise. The editor in chief hopes that through this effort, practitioners and researchers will be aided in finding answers to some of the most complex and pressing issues of our time

Brazilian Immigrant Mothers’ Beliefs and Practices Related to Infant Feeding: A Qualitative Study

Background: Exclusive breastfeeding for the first 6 months of life and timely introduction of appropriate solid foods are important determinants of weight status in infancy and later life stages. Disparities in obesity rates among young children suggest that maternal feeding practices during the first 2 years of life may contribute to these disparities. Brazilians are a growing immigrant group in the United States, yet little research has focused on parental beliefs and behaviors affecting the health of Brazilian immigrant children in the United States. Research aim: This study aimed to explore beliefs and infant-feeding practices of Brazilian immigrant mothers in the United States. Methods: Focus group discussions were conducted with Brazilian immigrant mothers. Transcripts were analyzed using thematic analysis and themes categorized using the socioecological model. Results: Twenty-nine immigrant Brazilian mothers participated in the study. Analyses revealed that all participants breastfed their infants. The majority initiated breastfeeding soon after childbirth. However, most mothers did not exclusively breastfeed. They used formula and human milk concomitantly. Family and culture influenced mothers’ infant-feeding beliefs and practices in early introduction of solid foods. Conclusion: As the number of children in the United States growing up in families of immigrant parents increases, understanding influences on Brazilian immigrant mothers’ infant-feeding practices will be important to the development of effective interventions to promote healthy infant feeding and weight status among Brazilian children. Interventions designed for Brazilian immigrant families should incorporate an understanding of social context, family, and cultural factors to develop health promotion messages tailored to the needs of this ethnic group

Global diversity in the TAS2R38 bitter taste receptor: Revisiting a classic evolutionary PROPosal

The ability to taste phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) is a polymorphic trait mediated by the TAS2R38 bitter taste receptor gene. It has long been hypothesized that global genetic diversity at this locus evolved under pervasive pressures from balancing natural selection. However, recent high-resolution population genetic studies of TAS2Rs suggest that demographic events have played a critical role in the evolution of these genes. We here utilized the largest TAS2R38 database yet analyzed, consisting of 5,589 individuals from 105 populations, to examine natural selection, haplotype frequencies and linkage disequilibrium to estimate the effects of both selection and demography on contemporary patterns of variation at this locus. We found signs of an ancient balancing selection acting on this gene but no post Out-Of-Africa departures from neutrality, implying that the current observed patterns of variation can be predominantly explained by demographic, rather than selective events. In addition, we found signatures of ancient selective forces acting on different African TAS2R38 haplotypes. Collectively our results provide evidence for a relaxation of recent selective forces acting on this gene and a revised hypothesis for the origins of the present-day worldwide distribution of TAS2R38 haplotypes

Glucagon-like peptide-1 receptor and sarcoglycan delta genetic variants can affect cardiovascular risk in chronic kidney disease patients under hemodialysis

Background Chronic kidney disease (CKD) patients under hemodialysis show a higher risk of cardiovascular (CV) mortality and morbidity than the general population. This study aims to identify genetic markers that could explain the increased CV risk in hemodialysis. Methods A total of 245 CKD patients under hemodialysis were recruited and followed up for 5\u2009years to record CV events. Genetic analysis was performed using single-nucleotide polymorphisms (SNPs) genotyping by Infinium Expanded Multi-Ethnic Genotyping Array (Illumina, San Diego, CA, USA) comparing patients with and without a history of CV events [161 cardiovascular diseases (CVDs) and 84 no CVDs]. The fixation index (Fst) measure was used to identify the most differentiated SNPs, and gene ontology analysis [Protein Analysis THrough Evolutionary Relationships (PANTHER) and Ingenuity Pathway Analysis (IPA)] was applied to define the biological/pathological roles of the associated SNPs. Partitioning tree analysis interrogated the genotype\u2013phenotype relationship between discovered genetic variants and CV phenotypes. Cox regression analysis measured the effect of these SNPs on new CV events during the follow-up (FU). Results Fst analysis identified 3218 SNPs that were significantly different between CVD and no CVD. Gene ontology analysis identified two of these SNPs as involved in cardiovascular disease pathways (Ingenuity Pathway) and heart development (Panther) and belonging to 2 different genes: Glucagon-like peptide-1 receptor (GLP1R) and Sarcoglycan delta (SGCD). The phenotype\u2013genotype analysis found a higher percentage of CVD patients carrying the GLP1R rs10305445 allele A (P\u2009=\u20090.03) and lower percentages of CVD patients carrying the SGCD rs145292439 allele A (P\u2009=\u20090.038). Moreover, SGCD rs145292439 was associated with higher levels of high-density lipoprotein (P\u2009=\u20090.015). Cox analysis confirmed the increased frequency of CV events during the 5-year FU in patients carrying GLP1R rs1035445 allele A but it did not show any significant association with SGCD rs145292439. Conclusions This study identified GLP1R rs10305445 and SCGD rs145292439 as potential genetic markers that may explain the higher risk of CVD in hemodialysis patients

Public Safety Communications above 6 GHz: Challenges and Opportunities

Advanced public safety communication (PSC) services call for fast, reliable and low-latency communication technologies, capable of supporting diverse communication modes (aerial, unmanned, vehicular, and peer-to-peer), fast channel dynamics, and ad hoc or mesh structures. For this reason, PSC has been identified as one of the key potential uses cases for the next generation of communication systems, the so-called 5G. In this scenario, the millimeter wave (mmWave) bands and other frequencies above 6 GHz are particularly interesting, since they are largely untapped and offer vastly more spectrum than current cellular allocations in the highly congested bands below 6 GHz, thus enabling orders of magnitude greater data rates and reduced latency. For example, new PSC networks in the mmWave bands could support high-definition video, virtual reality, and other broadband data to large numbers of first responders. Surveillance drones or ambulances could also be provided high-speed connectivity along with machine-type communication for remotely controlled robotic devices entering dangerous areas. However, the way towards this ambitious goal is hindered by a number of open research challenges. In this paper, after a brief introduction to PSC services and requirements, we illustrate the potential of the frequencies above 6 GHz for PSC and discuss the open problems that need to be solved in order to pave this way. Finally, we describe the main components of a test platform for mmWave systems that is functional to the study of such complex scenarios and that we plan to develop as an invaluable tool for realizing mmWave PSC networks

Squarephaneic tetraanhydride: a conjugated square‐shaped cyclophane for the synthesis of porous organic materials

Aromatic carboxylic anhydrides are ubiquitous building blocks in organic materials chemistry and have received considerable attention in the synthesis of organic semiconductors, pigments, and battery electrode materials. Here we extend the family of aromatic carboxylic anhydrides with a unique new member, a conjugated cyclophane with four anhydride groups. The cyclophane is obtained in a three-step synthesis and can be functionalised efficiently, as shown by the conversion into tetraimides and an octacarboxylate. Crystal structures reveal the high degree of porosity achievable with the new building block. Excellent electrochemical properties and reversible reduction to the tetraanions are shown for the imides; NMR and EPR measurements confirm the global aromaticity of the dianions and evidence the global Baird aromaticity of the tetraanions. Considering the short synthesis and unique properties, we expect widespread use of the new building block in the development of organic materials

Assessment of the olfactory function in Italian patients with type 3 von Willebrand disease caused by a homozygous 253 Kb deletion involving VWF and TMEM16B/ANO2.

Type 3 Von Willebrand disease is an autosomal recessive disease caused by the virtual absence of the von Willebrand factor (VWF). A rare 253 kb gene deletion on chromosome 12, identified only in Italian and German families, involves both the VWF gene and the N-terminus of the neighbouring TMEM16B/ANO2 gene, a member of the family named transmembrane 16 (TMEM16) or anoctamin (ANO). TMEM16B is a calcium-activated chloride channel expressed in the olfactory epithelium. As a patient homozygous for the 253 kb deletion has been reported to have an olfactory impairment possibly related to the partial deletion of TMEM16B, we assessed the olfactory function in other patients using the University of Pennsylvania Smell Identification Test (UPSIT). The average UPSIT score of 4 homozygous patients was significantly lower than that of 5 healthy subjects with similar sex, age and education. However, 4 other members of the same family, 3 heterozygous for the deletion and 1 wild type, had a slightly reduced olfactory function indicating that socio-cultural or other factors were likely to be responsible for the observed difference. These results show that the ability to identify odorants of the homozygous patients for the deletion was not significantly different from that of the other members of the family, showing that the 253 kb deletion does not affect the olfactory performance. As other genes may compensate for the lack of TMEM16B, we identified some predicted functional partners from in silico studies of the protein-protein network of TMEM16B. Calculation of diversity for the corresponding genes for individuals of the 1000 Genomes Project showed that TMEM16B has the highest level of diversity among all genes of the network, indicating that TMEM16B may not be under purifying selection and suggesting that other genes in the network could compensate for its function for olfactory ability

Reconstructing Druze population history

The Druze are an aggregate of communities in the Levant and Near East living almost exclusively in the mountains of Syria, Lebanon and Israel whose ~1000 year old religion formally opposes mixed marriages and conversions. Despite increasing interest in genetics of the population structure of the Druze, their population history remains unknown. We investigated the genetic relationships between Israeli Druze and both modern and ancient populations. We evaluated our findings in light of three hypotheses purporting to explain Druze history that posit Arabian, Persian or mixed Near Eastern-Levantine roots. The biogeographical analysis localised proto-Druze to the mountainous regions of southeastern Turkey, northern Iraq and southeast Syria and their descendants clustered along a trajectory between these two regions. The mixed Near Eastern-Middle Eastern localisation of the Druze, shown using both modern and ancient DNA data, is distinct from that of neighbouring Syrians, Palestinians and most of the Lebanese, who exhibit a high affinity to the Levant. Druze biogeographic affinity, migration patterns, time of emergence and genetic similarity to Near Eastern populations are highly suggestive of Armenian-Turkish ancestries for the proto-Druze

A reference panel of 64,976 haplotypes for genotype imputation.

We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently