Related Haplotypes Research Articles

Phylogeography of the Siberian weasel (Mustela sibirica), based on a mitochondrial DNA analysis

AbstractWe investigated the genetic diversity and distribution pattern of mitochondrial DNA control-region haplotypes across the distributional range of the Siberian weasel (Mustela sibirica) in Eastern Eurasia. We identified 23 haplotypes from 65 individuals sampled from 21 localities. Our analyses showed two major phylogeographical groups: group I comprised continental Russia, Tsushima and Korea, and group II comprised China, Taiwan and Korea. Two novel haplotypes found in the Amur area and one from Gansu Province were closely related to the Tsushima and Taiwan clades, respectively. Phylogeographical and demographic analyses indicated a recent population expansion for group I, whereas no clear evidence for expansion was obtained for group II. The recent expansion of group I is also supported by historical records. Closely related haplotypes were found between the continental populations and the insular populations on Tsushima and Taiwan, suggesting that the ancestors of the insular populations immigrated from the continent via land bridges. The two groups could have evolved allopatrically in parts of eastern Asia differing in climate and vegetation.

Association between vitamin D deficiency and common variants of Vitamin D binding protein gene among Mexican Mestizo and indigenous postmenopausal women.

Vitamin D deficiency (VDD) and polymorphisms in the group-specific component (GC) gene are known to be associated in different populations. However, the effects of such genetic variants may vary across different populations. Thus, the objective of this study was to estimate the association between Vitamin D-Binding Protein (VDBP) haplotypes and VDD in mestizo postmenopausal women and Mexican Amerindian ethnic groups. This was a cross-sectional study of 726 postmenopausal Mexican women from the Health Workers Cohort Study (HWCS) and 166 postmenopausal women from the Metabolic Analysis in an Indigenous Sample (MAIS) cohort in Mexico. GC polymorphisms (rs7045 and rs4588) were analyzed by TaqMan probes. Serum 25-hydroxyvitamin D [25(OH)D] levels were measured by Chemiluminescent Microparticle Immuno Assay. The prevalence of VDD serum 25(OH)D < 20ng/mL was 43.7% in mestizo women and 44.6% in indigenous women. In HWCS, the single nucleotide polymorphisms (SNPs) rs7041 and rs4588 were associated with VDD. In addition, women from the HWCS, carrying the haplotypes GC2/2 and GC1f/2 had higher odds of VDD (OR = 2.83, 95% CI 1.14, 7.02; and OR = 2.30, 95% CI 1.40, 3.78, respectively) compared to women with haplotype 1f/1s. These associations were not statistically significant in the MAIS cohort. Our results show genetic association of the analyzed SNPs and related haplotypes, on the GC gene, with VDD in mestizo Mexican postmenopausal women. Moreover, a high prevalence of VDD with high genetic variability within the country was observed. Our results support the need for national policies for preventing VDD.

Molecular evidence of sustained urban malaria transmission in Amazonian Brazil, 2014-2015.

The relative contribution of imported vs. locally acquired infections to urban malaria burden remains largely unexplored in Latin America, the most urbanised region in the developing world. Here we use a simple molecular epidemiology framework to examine the transmission dynamics of Plasmodium vivax in Mâncio Lima, the Amazonian municipality with the highest malaria incidence rate in Brazil. We prospectively genotyped 177 P. vivax infections diagnosed in urban residents between June 2014 and July 2015 and showed that local parasites are structured into several lineages of closely related microsatellite haplotypes, with the largest genetic cluster comprising 32% of all infections. These findings are very unlikely under the hypothesis of multiple independent imports of parasite strains from the rural surroundings. Instead, the presence of an endemic near-clonal parasite lineage circulating over 13 consecutive months is consistent with a local P. vivax transmission chain in the town, with major implications for malaria elimination efforts in this and similar urban environments across the Amazon.

On the frequency of northern and mountain genetic variants of widespread species: essential biodiversity information in a warmer world

AbstractBiodiversity studies and conservation management often neglect fundamental genetic diversity, even if biodiversity loss due to reduction in genetic diversity in declining, relatively common species is probably greater than the loss resulting from disappearing rare species. Climate models suggest that global warming will especially affect high latitudes due to a higher than average temperature increase towards the poles. In widespread Northern Hemisphere species, climate warming will therefore negatively affect especially northern and mountain genetic variants (NMGVs) in the same way that it will affect species with similar distributions. To explore whether NMGVs are frequent, they were searched for in ten widespread moss species based on a wide geographical sampling in Sweden and (two-) three (-four) molecular markers per species. NeighborNet split networks and jackknife analyses showed that eight of the studied species include one or more northern or, in most cases, mountain intraspecific genetic lineages or groups of related haplotypes. Analysis of molecular variance also showed that in the two species lacking such lineages or groups the genetic composition differs between different parts of Sweden or between lowlands and mountains of the north. Haplotype or nucleotide diversity is often higher in the north or mountains than in the south or lowlands. The high incidence of NMGVs, differences in genetic composition between the study regions and the frequent high diversity in the north or mountains show that conservation of the total biodiversity must also include the genetic diversity, not just the more obvious species-level taxa with restricted northern or mountain distributions.

Noninvasive prenatal diagnosis of β-thalassemia by relative haplotype dosage without analyzing proband.

Backgroundβ‐thalassemia is one of the most common monogenic diseases in the world. Southeast China is a highly infected area affected by four β‐thalassemia mutation types (HBB:c.‐78A>G, HBB:c.52A>T, HBB:c.126_129delCTTT, and HBB:c.316‐197C>T). Relative haplotype dosage (RHDO), a haplotype‐based approach, has shown promise as an application for noninvasive prenatal diagnosis (NIPD); however, additional family members (such as the proband) are required for haplotype construction. The abovementioned circumstances make RHDO‐based NIPD cost prohibitive; additionally, the genetic information of the proband is not always available. Thus, it is necessary to find a practical method to solve these problems.MethodsTargeted sequencing was applied to sequence parental genomic DNA and cell‐free fetal DNA (cffDNA). Parental haplotypes were constructed with the SHAPEIT software based on the 1000 Genomes Project (1000G) Phase 3 v5 Southern Han Chinese (CHS) haplotype dataset. Single‐nucleotide polymorphisms (SNPs) in the target region were called and classified, and the fetal mutation inheritance status was deduced using the RHDO method.ResultsConstruction of the parental haplotypes and detection of the inherited parental mutations were successfully achieved in five families, despite a suspected recombination event. The status of the affected fetuses is consistent with the results of traditional reverse dot blot (RDB) diagnosis.ConclusionThis research introduced SHAPEIT into the classical RHDO workflow and proved that it is applicable to construct parental haplotypes without information from other family members.

Phylogeographic analysis of Iranian wildcats (Felis lybica / Felis silvestris) as revealed by mitochondrial cytochrome b gene

The wildcat (Felis lybica/Felis silvestris) is widely distributed in Africa and Eurasia. Iran is situated at the intersection of the distributions of the European Wildcat F. silvestris with the African Wildcat F. lybica. The genetic relationships of the Iranian wildcat population with either group remain unclear. We examined sequence variation of 1,140 bp of mitochondrial DNA cytochrome b gene from 23 wildcat samples collected across Iran. The analyses revealed two subclades, of which one is related to the Asian Wildcat (F. lybica ornata) and the other to the African Wildcat (F. lybica lybica) and the Domestic Cat (F. catus). Sixteen closely related haplotypes were identified for the entire country, with two geographically distinct subclades for western and eastern Zagros Mountain Range and overlapping in some localities. The analyses of fixation index (FST) and molecular variance (AMOVA) demonstrated significant genetic structuring among the two subclades(FST=0.63). Analysis of mismatch distribution and multimodal graph indicated that the Iranian wildcat population is in a condition of demographic equilibrium.

Diversity of Karyolysus and Schellackia from the Iberian lizard Lacerta schreiberi with sequence data from engorged ticks.

Apicomplexan haemoparasites of the genera Schellackia Reichenow, 1919, and Karyolysus Labbé, 1894, seem to be common in lizards and widespread across the world. For decades, their identification has been based on morphological descriptions and life cycle patterns, with molecular characterizations, applied only recently. We used molecular characterization to confirm the identification of haemoparasites detected by microscopy in blood smears of Lacerta schreiberi Bedriaga, 1878, a lizard of the Iberian Peninsula. Since blood samples other than blood smears were not available from the studied lizards, 264 engorged ticks Ixodes ricinus (Linneaus, 1758) collected from them were used as an alternative non-invasive source of haemoparasite DNA for molecular genetic analyses. Of the 48 blood smears microscopically examined, 31 were positive for blood parasites (64.6% prevalence). We identified trophozoites and gamonts similar to Karyolysus lacazei (Labbé, 1894) (24/48; 50%) and Schellackia-like sporozoites (20/48; 41.7%). Mixed infections with both species occurred in 13 blood smears (27.1%). Sequence data were obtained for both parasites from engorged ticks. Phylogenetic analyses placed our unique haemogregarine sequence within the Karyolysus clade, nevertheless, within substantial polytomy. Thus, according to its morphology and effect on the host cell, we refer to this haemogregarine as Karyolysus cf. lacazei. Besides the Schellackia sequences being identical to a previously identified haplotype, we also obtained sequences of three new closely related haplotypes.

Biodiversity, Leishmania genetic typing and host identification of phlebotomine species in endemic foci of southeastern Iran

Leishmaniasis is a growing health challenge in many parts of Iran, including Kerman Province. Investigating vector ecology and parasite-harboring capacity is prerequisite to the disease control measures. This study included six provincial sites namely Bam (Bm), Dehbakri (Di), Jiroft (Jt), Mohammad-Abad (Md), Rostam-Abad (Rd) and Darb-e-Behesht (Dt) where sand flies were trapped. The specimens were then identified before being exposed to DNA extraction. PCR-RFLP was used to detect leishmanial infection rates and feeding preference of vectors. Diversity indices indicated that the highest effective numbers of species was in plain sites, whereas, the highest expected numbers of species was in mountainous sites. P. papatasi and P. sergenti showed similar feeding preferences to both human and animal bloods. P. papatasi from indoor catches was found infected with Leishmania major at a 2% rate. The ITS1 gene sequences of isolated parasites were >99% similar to related GenBank haplotypes. Bam and Rostam-Abad remain active foci of both types of cutaneous leishmaniasis (CL). Md and Di are prone to visceral leishmaniasis (VL). Jt is not at risk of anthroponotic cutaneous leishmaniasis (ACL) due to absence of P. sergenti. Sand flies are absent in Dt, probably because of high elevation and cold climate. In conclusion, patterns of climate and ecosystem changes and vector-host-reservoirs interactions must be carefully scrutinized if leishmaniasis is to be controlled in the stricken sites.

Pollinators on the polar edge of the Ecumene: taxonomy, phylogeography, and ecology of bumble bees from Novaya Zemlya.

The High Arctic bumble bee fauna is rather poorly known, while a growing body of recent molecular research indicates that several Arctic species may represent endemic lineages with restricted ranges. Such local endemics are in need of special conservation efforts because of the increasing anthropogenic pressure and climate changes. Here, we re-examine the taxonomic and biogeographic affinities of bumble bees from Novaya Zemlya using historical samples and recently collected materials (1895–1925 vs. 2015–2017). Three bumble bee species inhabit the Yuzhny (Southern) Island and the southern edge of Severny (Northern) Island of this archipelago: Bombusglacialis Friese, 1902, B.hyperboreus Schönherr, 1809, and B.pyrrhopygus Friese, 1902. Bombusglacialis shares three unique COI haplotypes that may indicate its long-term (pre-glacial) persistence on Novaya Zemlya. In contrast, Bombushyperboreus and B.pyrrhopygus share a rather low molecular divergence from mainland populations, with the same or closely related haplotypes as those from Arctic Siberia and Norway. A brief re-description of Bombuspyrrhopygus based on the newly collected topotypes is presented. Habitats, foraging plants and life cycles of bumble bees on Novaya Zemlya are characterized, and possible causes of extremely low bumble bee abundance on the archipelago are discussed. The species-poor bumble bee fauna of Novaya Zemlya is compared with those in other areas throughout the Arctic. The mean bumble bee species richness on the Arctic Ocean islands is three times lower than that in the mainland Arctic areas (3.1 vs. 8.6 species per local fauna, respectively). General linear models (GLMs) indicate that this difference can be explained by specific environmental conditions of insular areas. Our findings highlight that the insularity is a significant factor sharply decreasing species richness in bumble bee assemblages on the Arctic Ocean archipelagoes through colder climate (lower summer temperatures), prevalence of harsh Arctic tundra landscapes with poor foraging resources, and in isolation from the mainland.

Selection signatures in candidate genes and QTL for reproductive traits in Nellore heifers

The identification of selection signature genes may help to detect genomic regions that underwent artificial selection and contributed to phenotypic diversity. The aim of this study, therefore, was to detect selection signatures in candidate genes and quantitative trait locus (QTL) for reproductive traits in a Nellore population being selected for sexual precocity. A total of 2035 Nellore heifers, sourced from breeding programs focused on sexual precocity, were used. Candidate genes and some specific QTL related to reproductive traits were chosen based on published literature and Animal QTL databases, respectively, for investigation whether these regions were affected by selection. Selection signature DNA sequences were detected in the selected regions using the extended haplotype homozygosity (EHH) and relative extended haplotype homozygosity (REHH) methods. From 22,241 single nucleotide polymorphisms (SNPs) located in the candidate genes and QTL, 17,312 SNPs generated 2756 haplotype blocks. A total of 7518 EHH tests were analyzed using haplotypes with a frequency of more than 25%, for which there were 39 tests that were significant for REHH (P<0.01). Selection signature DNA sequences were detected that contained several QTLs for important reproductive traits in cattle, suggesting that reproductive traits may have been affected by selection for sexual precocity in this population. Forty-six genes were located in the selection signature regions, whereas 24 genes participated in important biological processes or pathways that may underlie sexual precocity. These results indicate there are possible molecular mechanisms related to sexual precocity in the Nellore breed.

Holarctic phylogeographic structure of Eurasian wigeon (Mareca penelope)

The Eurasian wigeon (Mareca penelope) is one of the most numerous migrant species of waterfowl in the Palearctic. Annually, significant part of the world’s wigeon population makes seasonal flights over distances from tens to thousands or more kilometers. According to different estimates based on banding data, five geographic populations of the species were described in the Palearctic. However, distinct borders between the populations have not been identified. At the same time, no phylogeographic studies have been carried out for the complete native range of wigeon so far. In addition to the fundamental importance of such a study, knowledge of the genetic structure of populations is necessary for the development of measures to increase the number of and preserve this valuable game species. The aim of our work was a phylogeographic analysis of the wigeon across its vast native range in the Palearctic including ducks wintering in North America. We examined genetic diversity and differentiation of wigeon populations identified with banding data, phylogenetic relationships of mtDNA haplotypes and demographic history of populations and species as a whole by sequencing a 661 base-pair 5’-fragment of the mitochondrial control region from 195 individual ducks collected throughout the Palearctic and Nearctic. Genetic diversity was high in all studied populations. A reconstruction of haplotypes phylogeny revealed the absence of geographic structure in the data. Nonetheless, analysis of molecular variance (AMOVA) identified two groups of populations: EuropeanSiberian and East Asian. The former included wigeons from Europe, Siberia and the Atlantic coast of North America, and the latter comprised ducks from Russian Far East, Kamchatka Peninsula, Chukotka Autonomous District, the Aleutian Islands, Alaska, and the Pacific coast of North America.

MHC class I polymorphic Alu insertion (POALIN) allele and haplotype frequencies in the Arabs of the United Arab Emirates and other world populations

Polymorphic Alu insertions (POALINs) are found throughout the human genome and have been used in various studies to infer geographic origin of human populations. The main aim of this study was to determine the allele and haplotype frequencies of five POALINs, AluHF, AluHG, AluHJ, AluTF and AluMICB, within the major histocompatibility complex (MHC) class I region of 95 UAE Arabs, and correlate their frequencies to those of the HLA-A, HLA-C and HLA-B class I allele lineages. Evolutionary relationships between the POALINs of the Arabs and those previously studied in populations of African, Asian and European descent were compared. At each of the five Alu loci (AluHF, AluHG, AluHJ, AluTF and AluMICB), Alu insertion was designated as Alu(locus)*02 and absence was Alu(locus)*01. The AluHG insertion (AluHG*02) had the highest frequency (0.332), followed by AluHF*02 (0.300), AluHJ*02 (0.263), AluMICB*02 (0.111) and AluTF*02 (0.058). Of the 270 Alu-HLA haplotypes pairs in the UAE Arabs, 110 had no Alu insertion, and 54 had an Alu insertion at >50% per haplotype. An Alu insertion >75% per haplotype was found between AluMICB*02 and HLA-B*14, HLA-B*22, HLA-B*44, HLA-B*55, HLA-B*57 and HLA-B*73, and with HLA-C*01 and HLA-C*18; AluHJ*02 with HLA-A*01, HLA-A*19, HLA-A*24 and HLA-A*32; AluHG*02 with HLA-A*02 and HLA-B*18; and AluHF*02 with HLA-A*10. The genotyped allele and haplotype frequencies of the MHC POALINs in UAE Arabs were compared with the results of 30 previously published Asian, European, American and African populations. Phylogenetic and multidimensional scaling (MDS) analysis of the relative MHC POALINs allele and haplotype frequencies revealed that the UAE Arabs have a similar lineage to Caucasians and the most distant genetic relationship to the Waorani native American population of Ecuador. The structure of both the phylogenetic tree and the MDS analysis supports the Out of Africa theory of human evolution. The nature of the clusters suggests the Arabian Middle East represents a crossroads from which human populations migrated towards Asia in the east and Europe to the north-west.

Unveiling patterns of genetic variation in parasite-host associations: an example with pinworms and Neotropical primates - CORRIGENDUM.

Patterns of genetic variation among populations can reveal the evolutionary history of species. Pinworm parasites are highly host specific and form strong co-evolutionary associations with their primate hosts. Here, we describe the genetic variation observed in four Trypanoxyuris species infecting different howler and spider monkey subspecies in Central America to determine if historical dispersal processes and speciation in the host could explain the genetic patterns observed in the parasites. Mitochondrial (cox1) and ribosomal (28S) DNA were analysed to assess genetic divergence and phylogenetic history of these parasites. Sequences of the 28S gene were identical within pinworms species regardless of host subspecies. However, phylogenetic analyses, haplotype relationships and genetic divergence with cox1 showed differentiation between pinworm populations according to host subspecies in three of the four Trypanoxyuris species analysed. Haplotype separation between host subspecies was not observed in Trypanoxyuris minutus, nor in Trypanoxyuris atelis from Ateles geoffoyi vellerosus and Ateles geoffoyi yucatanensis. Levels of genetic diversity and divergence in these parasites relate with such estimates reported for their hosts. This study shows how genetic patterns uncovered in parasitic organisms can reflect the host phylogenetic and biogeographic histories.

The role of ERCC1 and AFP gene polymorphism in hepatocellular carcinoma.

The aim of this study was to evaluate the effects of polymorphisms in excision repair cross-complementation group 1 (ERCC1) and alpha-fetoprotein (AFP) genes and their haplotypes on the susceptibility to hepatocellular carcinoma (HCC), and to decipher the association between single-nucleotide polymorphisms (SNPs) and clinicopathologic characteristics of HCC.Peripheral blood DNA was extracted from 206 subjects. SNaPshot technique was used for genotyping 5 SNP sites of the ERCC1 rs735482, rs1046282, rs3212948, and AFP rs737241, rs4024 genotypes. Chi-squared test and logistic regression model were used to analyze the relationship of different genotypes or haplotype and the susceptibility and clinicopathologic characteristics of HCC.The frequency of GG.GA and AA genotypes at the AFP rs737241 site in the case and control groups showed statistically significant differences (P < .05). The risk of HCC in subjects carrying mutated allele A (GA+AA) was increased by 0.543-times (P < .05) compared to that in the subjects with the GG genotype. Significant differences were observed in the linkage disequilibrium between 2 of the five SNPs (P < .05); the frequency of ERCC1 C-C and AFP A-A haplotypes was significantly lower in the case group than in the control group (P < .05). The results of clinicopathologic analysis showed that A allele at the rs737241 locus could increase the expression level of AFP (P = .007), the rs1046282 mutation C allele could increase the AFP expression level (P = .011), rs4024 locus mutation A allele could reduce the risk of vascular invasion (P = .013), rs3212948 locus mutation T allele could reduce the differentiation of liver cancer (P = .022), rs1046282 locus C allele could reduce the DNA load of hepatitis B virus (P = .035), and rs735482 A allele could increase the tumor size in HCC (P = .037).The SNPs in rs737241 for AFP gene may correlate with the occurrence of HCC. The SNPs in ERCC1 and AFP genes may affect the prognosis of HCC, offering reliable information for early prediction of tumor progression and diagnosis of HCC.

Genetic variation in field voles (Microtus agrestis) from the British Isles: selective sweeps or population bottlenecks?

The Eurasian field vole (Microtus agrestis) comprises three evolutionarily significant units (ESUs). The northern ESU is found at higher latitudes across the western Palaearctic region and includes six, largely allopatric, mitochondrial DNA lineages that were derived from population bottlenecks. One of these lineages is found in southern Britain and nearby areas of continental Europe. A prominent sub-lineage is nested within, and therefore derived from, the part of this lineage occupying southern Britain. The sub-lineage consists of an abundant central haplotype together with a series of closely related haplotypes, a distribution that would result from either a recent population bottleneck or a selective sweep. To distinguish between these, we sequenced a Y-chromosome marker in 167 field voles from Britain and Europe, and analysed a panel of 13 autosomal microsatellite loci in 144 field voles from eight populations in Britain. The Y-chromosome marker showed a continental-scale pattern of variation that was not aligned with that of the mitochondrial marker, while microsatellite variation did not show any evidence for a bottleneck, tentatively favouring selection instead. This implies a role for both stochastic and selective processes in generating phylogeographical patterns at different scales in the field vole.

Genetic Diversity ofApisspp. in Thailand Inferred from 28S rRNA Nuclear and Cytochrome b Mitochondrial Gene Sequences

Knowledge of the genetic diversity ofApisspp. is important in order to provide a better understanding of breeding strategies that relate to the conservation of wild species and colony survival of farmed species. Here, honeybees of fiveApisspecies were collected from 12 provinces throughout Thailand. After DNA extraction,28S rRNAnuclear (710 bp) and cytochrome b (cytb) mitochondrial (520 bp) gene fragments were sequenced. Homologous sequences (nucleotide identity of over 95%) were obtained from GeneBank using the BLASTn algorithm, aligned, and analysed by maximum likelihood and Bayesian inference phylogenetics. For28S rRNA, a low genetic variation was detected within species (haplotype diversity ranging from 0.212 to 0.394), while 19 polymorphic sites were detected between species. Although the relative haplotype diversity was high, a low nucleotide divergence was found (0.7%), with migratory species. Forcytb, the sequence divergence ranged from 0.24 to 3.88% within species and 7.35 to 13.07% between species. The divergence ofcytbwas higher than that of28S rRNA.A. ceranashowed two distinct clades between Southern Thailand and the other regions. Groups ofA. cerana(Asian cavity-nesting),A. mellifera(European cavity-nesting),A. dorsata(giant open-nesting), andA. floreaandA. andreniformis(dwarf bees) were defined in the28S rRNAandcytbtree topologies.

Atypical β-S haplotypes: classification and genetic modulation in patients with sickle cell anemia.

β-S globin haplotype (βS haplotype) characterization in sickle cell anemia (SCA) patients is important because it assists individualized treatment. However, the patient with atypical haplotypes do not present detailed studies such as clinical and laboratory data. To understand the phenotypic expression of atypical haplotype patients in relation to typical haplotype ones, it may be necessary to assess the main clinical and laboratorial parameters and investigate transcription factors, as possible genetic modulators that can contribute to the improvement of the SCA patients' clinical condition. The study group was composed of 600 SCA Brazilian patients of both genders ranging in age from 1 to 68 years. The atypical haplotypes were the third most frequent (5.7%) with 11 patterns numerically ranked according to occurrence. We verified that patients with atypical 1 haplotype in combination with Bantu haplotype presented milder clinical outcomes in relation to Bantu/Bantu and Benin/Benin patients, according to improved values of hemoglobin and hematocrit. In clinical severity, we did not observe significant statistical differences between typical and atypical haplotype patients, and this result can be explained with reference to the action of transcription factors in β-globin cluster. Thus, we presented the atypical haplotype relationship with SCA pathophysiology, reinforcing the hypothesis that individual genetic factors may be responsible for phenotypic diversity of the disease.

Association of genetic variants with level of asthma control in the Arab population.

BackgroundRates of asthma in Jordan have been doubled in the past decade, but this increased prevalence was not met with improved asthma control protocols. The aim of the present study was to assess whether there was any significant association between the level of asthma control and certain single-nucleotide polymorphisms (SNPs) in five genes: (ADRB2; rs1042713 and rs1042714), (CRHR1; rs1876828, rs242939, and rs242941), (STIP1; rs2236647), (ADH5, rs1154400), and (ARG1; rs2781659). These SNPs were selected based on their involvement in enzymes and receptors that are related to asthma pathways and subsequent response to medication and based on a high degree of linkage disequilibrium.Patients and methodsA cross-sectional genetic association study was conducted from June 2016 to June 2017 in the two major hospitals in Jordan. The present study involved sampling from adult asthmatic patients of Arab descent who were selected from two phenotypic groups, ie, controlled and uncontrolled asthma. The blood samples and medical data were collected from the participants. DNA samples were extracted, quantified, and genotyped according to standard operating procedure. Allelic and haplotypic analyses were performed using the Haploview®.ResultsA total of 245 Arab asthmatic patients were enrolled in this study. Genotyping analysis revealed that the two SNPs (rs1042713 and rs1042714) in ADRB2 gene, along with their related haplotypes, were nominally significantly associated with asthma control in the Jordanian population. The A-allele of rs1042713 and the C-allele of rs1042714 were more common in the uncontrolled asthma group than in the controlled asthma group (P=0.048 and P=0.017, respectively).ConclusionThis was the first study that identified the nominal significant association between the level of asthma control and genetic variants in ADRB2 gene in Arab population. Further studies in other Arab region with larger sample size are recommended to confirm the relationship.

Genome-wide detection of selective signatures in a Duroc pig population

The Duroc pig has high adaptability and feeding efficiency, making it one of the most popular pig breeds worldwide. Over long periods of natural and artificial selection, genetic footprints, i.e., selective signatures, were left in the genome. In this study, a Duroc pig population (n=715) was genotyped with the Porcine SNP60K Bead Chip and the GeneSeek Genomic Profiler (GGP) Porcine Chip. The relative extended haplotype homozygosity (REHH) method was used for selective signature detection in a subset of the population (n=368), selected to represent a balanced family structure. In total, 154 significant core regions were detected as selective signatures (P<0.01), some of which overlap with previously reported quantitative trait loci associated with several economically important traits, including average daily gain and backfat thickness. Genome annotation for these significant core regions revealed a variety of interesting candidate genes including GATA3, TAF3, ATP5C1, and FGF1. These genes were functionally related to anterior/posterior pattern specification, phosphatidylinositol 3-kinase signaling, embryonic skeletal system morphogenesis, and oxidation-reduction processes. This research provides knowledge for the study of selection mechanisms and breeding practices in Duroc and other pigs.

DNA barcode sheds light on systematics and evolution of neotropical freshwater trahiras

We assessed the presence of independent evolving lineages of the trahira, Hoplias malabaricus, one of the few freshwater fish species having wide distribution in the Neotropics which is the region with the highest global diversity of freshwater fish. To achieve that goal, 58 mitochondrial sequences of cytochrome c oxidase subunit I (COI; DNA barcoding) were generated from collected samples and 85 obtained from public databases, which were analyzed in comparison to chromosomal and geological data. The magnitude of genetic diversity found among different sampling sites was greater than 2%. Molecular species delimitation methods indicated the existence of a least four distinct lineages. The recognised cytotypes did not form monophyletic groups, suggesting that the karyotypic macrostructure could be a homoplastic character. The haplotype relationships suggested secondary contacts between the ecoregions of Northern and Northeastern Brazil that were shaped by coastal routes between adjacent watersheds during the Pleistocene epoch and probable exchanges of their ichthyofaunas. Our results indicated that multiple factors have driven the diversification of H. malabaricus, from ancient geological events linked to the reactivation of tectonic faults to more recent occurrences related to eustatic changes in ocean levels. Ultimately, the magnitude of its genetic diversity suggests the necessity of revising its taxonomic status.