Archaic introgression contributed to shape the adaptive modulation of angiogenesis and cardiovascular traits in human high-altitude populations from the Himalayas by Giulia Ferraretti, Paolo Abondio, Marta Alberti, Agnese Dezi, Phurba T Sherpa, Paolo Cocco, Massimiliano Tiriticco, Marco Di Marcello, Guido Alberto Gnecchi-Ruscone, Luca Natali, Angela Corcelli, Giorgio Marinelli, Davide Peluzzi, Stefania Sarno, Marco Sazzini

“…For this purpose, we used a combination of composite-likelihood and gene network-based methods to detect adaptive loci in introgressed chromosomal segments from Tibetan WGS data and to shortlist those presenting Denisovan-like derived alleles that participate to the same functional pathways and are absent in populations of African ancestry, which are supposed to do not have experienced Denisovan admixture. …”
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The development of initial material of spring common wheat for breeding for resistance to stem rust (Puccinia graminis Pers. f. sp. tritici), uncluding race Ug99, in Russia by I. F. Lapochkina, O. A. Baranova, V. P. Shamanin, G. V. Volkova, N. R. Gainullin, A. V. Anisimova, D. N. Galinger, E. N. Lazareva, E. V. Gladkova, O. F. Vaganova

“…While developing hybrids with the spring mode of life, donor of resistance 113/00i-4 (Sr2, Sr36, Sr39, Sr40, Sr44, Sr47) and accession 145/05i, which is resistant to leaf rust under the conditions of the RF Central Region but susceptible to Ug99, were used for backcrossing, 137 individual plants with the homozygotic state of alleles of 2–5 genes of resistance to stem rust were selected from the obtained hybrid families F4–F5 and backcross progeny BC1F3-BC2F2-BC3F2 by means of molecular markers. …”
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Laying the groundwork: Exploring pesticide exposure and genetic factors in south-eastern Brazilian farmers by Débora Dummer Meira, Victor Nogueira Da Gama Kohls, Matheus Correia Casotti, Luana Santos Louro, Gabriel Mendonça Santana, Thomas Erik Santos Louro, Adriana Madeira Alvares da Silva, Lorena Souza Castro Altoé, Raquel Reis Trabach, Sonia Groisman, Elizeu Fagundes de Carvalho, Jamila Alessandra Perini Machado, Stephanie Seneff, Iúri Drumond Louro

“…Our goal is to study the risk of pesticide use, especially the herbicide glyphosate, in the development of diseases and the association with two CYP2C9 polymorphisms, in farmers living in the southern region of Espírito Santo state, Brazil. The allelic frequency of CYP2C9*1, CYP2C9*2 and CYP2C9*3 was determined in blood samples from individuals exposed or not to pesticides using real-time PCR. 304 blood samples were analyzed, dividing CYP2C9 genotypes into three metabolization classes: normal, intermediate, and slow. …”
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Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths by Lingyun Zhang, Lei Feng, Hao Shi, Wenbin Niu, Yanchi Wang, Bei Bu, Yidong Liu, Xiao Bao, Wenyan Song, Haixia Jin, Yingpu Sun

“…Euploid blastocysts without pathogenic alleles were transplanted, and healthy offspring were ultimately born. …”
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Complete inhibition of liver acetyl-CoA carboxylase activity is required to exacerbate liver tumorigenesis in mice treated with diethylnitrosamine by Riya Shrestha, Calum S. Vancuylenburg, Martina Beretta, Mingyan Zhou, Divya P. Shah, Ellen M. Olzomer, Sian L. Richards, Kyle L. Hoehn, Frances L. Byrne

“…Methods Six genotypes of female C57BL/6J mice with floxed ACC1 and/or ACC2 alleles were injected with DEN at 2 weeks of age followed by liver-specific knockout of ACC genes at 9 weeks. …”
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A new leaf pubescence gene, Hl1^th, introgressed into bread wheat from <i>Thinopyrum ponticum</i> and its phenotypic manifestation under homoeologous chromosomal substitu... by A. V. Simonov, E. I. Gordeeva, M. A. Genaev, W. Li, I. O. Bulatov, T. A. Pshenichnikova

“…The replacement of the Hl1 gene in the lines was also confirmed by the allelic state of the linked microsatellite marker Xgwm538. …”
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Microsatellite analyses reveal genetic diversity and population structure of Cipangopaludina chinensis in Guangxi, China by Xiao-kai Wei, Kang-qi Zhou, Xin-xi Zou, Xue-ling Zhang, Yu-Sen Li, Hui Luo, Yin Huang, Xue-song Du, Jun-qi Qin, Zhong Chen, Yong Lin, Xian-hui Pan, Hua Ye

“…The results showed that a total of 176 alleles in the populations were detected by 12 microsatellite markers. …”
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Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta by Yuyu Feng, Yonglan Huang, Xiaoyuan Zhao, Huiying Sheng, Xueying Su, Xi Yin, Liu Li, Wen Zhang

“…We detected mutations in GNPTAB in 35 of 40 alleles (87.5%). Mutation c.2715 + 1G > A and c.2404 C > T (p.Gln802Ter) were the most prevalent variants, accounting for 14.3% and 11.4%, respectively. …”
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Genetic characterization and mapping of the shell-strength trait in peanut by Gilad Ben Israel, Srinivas Kunta, William Mlelwa, Arye Harel, Kapil Gupta, Yael Levy, Shmuel Galili, Ran Hovav

“…Using an existing genetic map, we identified three QTLs for shell strength, with one major QTL (qSSB02) explaining 18.7% of the phenotypic variation. The allelic status of qSSB02 corresponded significantly with cultivar designation for in-shell or shelled types over four decades of Israeli peanut breeding. …”
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Dual antiplatelet therapy with ticagrelor vs clopidogrel in patients with TIA or minor stroke with or without symptomatic carotid artery stenosis: a post hoc analysis of the CHANCE... by Yongjun Wang, Yilong Wang, Xingquan Zhao, Jing Jing, Hao Li, Xia Meng, Anxin Wang, Yong Jiang, Jinxi Lin, Qin Xu, Xuewei Xie, Pan Chen

“…We aimed to evaluate whether the superiority of aspirin-ticagrelor over aspirin-clopidogrel varies between patients with sCAS or not.Methods This was a post-hoc analysis of the High-Risk Patients with Acute Nondisabling Cerebrovascular Events-II (CHANCE-2) trial, all of which were CYP2C19 loss-of-function alleles carriers. The primary exposures of interest were the treatment group and sCAS status. …”
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Genome-wide dissection of genes shaping inflorescence morphology in 242 Chinese south–north sorghum accessions by Guihua Zou, Yanqing Ding, Jianxia Xu, Zhou Feng, Ning Cao, Heyun Chen, Heqin Liu, Xueqiang Zheng, Xiuhui Liu, Liyi Zhang

“…Two domestication-related genes (Sobic.003G052700 and Sobic.006G247700) were located into two major QTL regions (QTL3.4721839 and QTL6.58709500) which were identified in multi-environments. Allelic variations in the two genes displayed a geographical pattern, indicating that different IM traits were selected by south and north sorghum breeders, such as south sorghums had long and loose panicles in order to adapt the hot and humid climate, while north sorghums had short and compact panicle to increase planting density and grain yield per unit area due to dry climate. …”
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Inheritance of resistance to maize lethal necrosis in tropical maize inbred lines by Hilda M. Kavai, Hilda M. Kavai, Dan Makumbi, Felister M. Nzuve, Vincent W. Woyengo, L. M. Suresh, William M. Muiru, Manje Gowda, Boddupalli M. Prasanna

“…Inbred lines CKL181281 and CKL182037 (GCA effects for MLN4 = -0.45 and -0.24, respectively) contained the most recessive alleles for MLN resistance. The minimum number of groups of genes involved in MLN resistance was estimated to be three. …”
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Midostaurin shapes macroclonal and microclonal evolution of FLT3-mutated acute myeloid leukemia by Romane Joudinaud, Augustin Boudry, Laurène Fenwarth, Sandrine Geffroy, Mikaël Salson, Hervé Dombret, Céline Berthon, Arnaud Pigneux, Delphine Lebon, Pierre Peterlin, Simon Bouzy, Pascale Flandrin-Gresta, Emmanuelle Tavernier, Martin Carre, Sylvie Tondeur, Lamya Haddaoui, Raphael Itzykson, Sarah Bertoli, Audrey Bidet, Eric Delabesse, Mathilde Hunault, Christian Récher, Claude Preudhomme, Nicolas Duployez, Pierre-Yves Dumas

“…Using a dedicated algorithm for FLT3-ITD detection, 189 FLT3-ITD microclones (allelic ratio [AR] of <0.05) and 225 macroclones (AR ≥ 0.05) were detected at both time points. …”
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First Report of SNPs Detection in TMEM154 Gene in Sheep from Poland and Their Association with SRLV Infection Status by Magdalena Materniak-Kornas, Katarzyna Piórkowska, Katarzyna Ropka-Molik, Adrianna Dominika Musiał, Joanna Kowalik, Anna Kycko, Jacek Kuźmak

“…The frequency of identified alleles differed among breeds. Moreover, the positive association between TMEM154 genotype and SRLV status was found for E35K polymorphism and two polymorphic sites in 5′UTR in one of analyzed breed. …”
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Intestinal current measurement and nasal potential difference to make a diagnosis of cases with inconclusive CFTR genetics and sweat test by Tobias Welte, Rebecca Minso, Angela Schulz, Christian Dopfer, Nadine Alfeis, Andrea van Barneveld, Lena Makartian-Gyulumyan, Gesine Hansen, Sibylle Junge, Carsten Müller, Felix C C Ringshausen, Annette Sauer-Heilborn, Frauke Stanke, Cornelia Stolpe, Stephanie Tamm, Anna-Maria Dittrich, Burkhard Tümmler

“…Of 26 individuals assessed by both NPD and ICM, eleven individuals exhibited discordant tracings of ICM and NPD, with one measurement being in the CF range and the other in the normal range.Conclusion The majority of patients whom we diagnosed with CF or CFTR-RD by extended electrophysiology are carriers of the wild-type CFTR coding sequence on at least one of their CF alleles. The disease-causing genetic lesions should reside in the non-coding region of CFTR or elsewhere in the genome, affecting the regulation of CFTR expression in a tissue-depending fashion which may explain the large within-group variability of CFTR activity in the respiratory and intestinal epithelium seen in this group.…”
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Endothelial eNOS deficiency causes podocyte injury through NFAT2 and heparanase in diabetic mice by Daisuke Katagiri, Shinya Nagasaka, Keiko Takahashi, Suwan Wang, Ambra Pozzi, Roy Zent, Akira Shimizu, Ming-Zhi Zhang, Joachim R. Göthert, Toin H. van Kuppevelt, Raymond C. Harris, Takamune Takahashi

“…Here, we targeted endothelial eNOS expression (E-eNOSKO) after the onset of diabetes using the floxed eNOS and endSCL-CreERT alleles. Diabetes was induced by low-dose streptozotocin injections. …”
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Genome‐Wide Diversity in Lowland and Highland Maize Landraces From Southern South America: Population Genetics Insights to Assist Conservation by Pia Guadalupe Dominguez, Angela Veronica Gutierrez, Monica Irina Fass, Carla Valeria Filippi, Pablo Vera, Andrea Puebla, Raquel Alicia Defacio, Norma Beatriz Paniego, Veronica Viviana Lia

“…ABSTRACT Maize (Zea mays ssp. mays L.) landraces are traditional American crops with high genetic variability that conform a source of original alleles for conventional maize breeding. Northern Argentina, one the southernmost regions of traditional maize cultivation in the Americas, harbours around 57 races traditionally grown in two regions with contrasting environmental conditions, namely, the Andean mountains in the Northwest and the tropical grasslands and Atlantic Forest in the Northeast. …”
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An Ethyl Methanesulfonate-Induced <i>GIF1</i> Splicing Site Mutation in Sesame Is Associated with Floral Malformation and Small Seed Size by Guiting Li, Hengchun Cao, Qin Ma, Ming Ju, Huili Wang, Qiuzhen Tian, Xiaoxu Feng, Xintong Zhang, Jingjing Kong, Haiyang Zhang, Hongmei Miao

“…Compared to the wild-type allelic gene <i>SiGIF1</i>, <i>Sigif1</i> in the mutant <i>css1</i> has a splice donor variant at the exon2 and intron2 junction, which results in incorrect transcript splicing with a 13 bp deletion in exon2. …”
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Quantifying conformational changes in the TCR:pMHC-I binding interface by Benjamin McMaster, Benjamin McMaster, Christopher J. Thorpe, Christopher J. Thorpe, Jamie Rossjohn, Jamie Rossjohn, Charlotte M. Deane, Hashem Koohy

“…Thus, it remains an open question of whether movement occurs in the binding interface that enables the recognition and activation of T cells.MethodsIn this work, we quantify the conformational changes in the TCR:pMHC-I binding interface by creating a dataset of 391 structures, comprising 22 TCRs, 19 MHC alleles, and 79 peptide structures in both unbound (apo) and bound (holo) conformations.ResultsIn support of some case studies, we demonstrate that all complementarity determining region (CDR) loops move to a certain extent but only CDR3α and CDR3β loops modify their shape when binding pMHC-Is. …”
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A Combinatorial Functional Precision Medicine Platform for Rapid Therapeutic Response Prediction in AML by Noor Rashidha Binte Meera Sahib, Jameelah Sheik Mohamed, Masturah Bte Mohd Abdul Rashid, Jayalakshmi, Yihao Clement Lin, Yen Lin Chee, Bingwen Eugene Fan, Sanjay De Mel, Melissa Gaik Ming Ooi, Wei‐Ying Jen, Edward Kai‐Hua Chow

“…Serial QPOP analysis in a FLT3‐mutant patient sample indicated decreased FLT3 inhibitor (FLT3i) sensitivity, which is concordant with increasing FLT3 allelic burden and drug resistance development. Forkhead box M1 (FOXM1)—AKT signaling was subsequently identified to contribute to resistance to FLT3i. …”
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