Article
Genetics & Heredity
Tianzhong Yang, Lauren J. Mills, Aubrey K. Hubbard, Rui Cao, Andrew Raduski, Mitchell J. Machiela, Logan G. Spector
Summary: A genetic investigation was conducted to explore the relationship between different types of hernia and Ewing sarcoma (EWS). The study found a positive causal relationship between inguinal hernia and EWS, as well as a stronger causal relationship between diaphragmatic hernia and EWS. However, no evidence of a causal or genetic relationship was observed between EWS and umbilical hernia or the other three types of hernia. The findings provide additional support for the hypothesis that EWS and hernias may share a common origin.
HUMAN GENETICS AND GENOMICS ADVANCES
(2024)
Article
Genetics & Heredity
Augusto Akira Mori, Vanessa Barbosa Malaquias, Kennedy Bonjour, Glaucio Monteiro Ferreira, Raul Hernandes Bortolin, jessica Bassani Borges, Victor Fernandes de Oliveira, Rodrigo Marques Goncalves, Andre Arpad Faludi, Gisele Monteiro Bastos, Helena Thurow, Marcelo Ferraz Sampaio, Rozana Mesquita Ciconelli, Adriano Namo Cury, Cristina Moreno Fajardo, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hirata
Summary: This study explored the impact of LDLR missense variants on protein structure and function, and found that some variants are associated with familial hypercholesterolemia and reduced LDLR expression and activity.
Article
Genetics & Heredity
Linchuan Fang, Zeming Wang, Lingye Su, Linzhong Gong, Haiping Xin
Summary: The Vitis Myb14 transcription factor plays a crucial role in grapevine stress responses, contributing to enhanced antioxidant enzyme activity, improved drought and cold tolerance, and involvement in ROS scavenging and ABA signaling through reprogramming of signaling pathways.
Article
Genetics & Heredity
Yiqing Yang, Yuanyuan Zhou, Xuan Li, Yinlin He, Yinshan Bai, Bingyun Wang, Shengfeng Chen, Canying Liu
Summary: This study comprehensively explored the effects of PG1 on porcine GCs using transcriptome profiling. The results revealed that PG1 regulates several genes associated with GC function and ovarian follicle development. GO and KEGG pathway analyses identified genes related to the immune system, infectious disease, and signaling pathways. Additionally, PPI analysis uncovered DEGs involved in cytokine-cytokine receptor interaction, neuroactive ligand-receptor interaction, and chemokine signaling pathway. This study expanded our understanding of the role of PG1 in immune defense and mammalian ovarian follicular development.
Article
Genetics & Heredity
Susmita Khatua, Alankar Roy, Pritha Sen, Sujay Ray
Summary: This study analyzed the effects of two point mutations on the stability of the PHB2 protein and the formation of the mitochondrial complex. The results showed that these mutations decreased the overall stability of PHB2 and resulted in the formation of a less stable prohibitin complex. This suggests that PHB1 and PHB2 may serve as molecular targets or novel biomarkers for therapeutic intervention.
Article
Genetics & Heredity
Mengna Zhang, William B. Hillegass, Xue Yu, Suvankar Majumdar, J. Daryl Pollard, Erin Jackson, Jarrod Knudson, Douglas Wolfe, Gregory J. Kato, Joseph F. Maher, Hao Mei
Summary: This study identified several candidate genetic variants associated with QTc interval prolongation in sickle cell disease (SCD) patients and found serum alanine transaminase (ALT) to be a modifying factor. The association of a CPS1 gene variant in both QTc and JTc duration suggests the involvement of the urea cycle and nitric oxide metabolism in cardiac repolarization in SCD. Larger replication studies are needed to confirm these findings and elucidate the underlying mechanisms.
Article
Genetics & Heredity
Rahul Rajendran, Rahul Krishnan, Jong -Oh Kim, Myung-Joo Oh
Summary: Ion channels in fishes play an important role in the excitation and transmission of impulses through neuronal cells. This study reveals that the expression of potassium channel genes changes during NNV infection in the sevenband grouper, and the downregulation of these genes is associated with viral replication. These findings suggest that potassium channels play a crucial role during viral infection.
Article
Genetics & Heredity
Avinash B. Patel, Yuan He, Ishwar Radhakrishnan
Summary: This paper reviews the current understanding of the molecular mechanisms of acetylation and deacetylation, compares shared features, and discusses future research questions.
Article
Genetics & Heredity
Hongzheng Sun, Jiajun Sun, Zeke Yuan, Fuhao Li, Xinrong Li, Junzhou Li, Yanxiu Du, Fengqing Wang
Summary: The study identified a brittle culm mutant bc26 in rice, which showed reduced cellulose content and increased hemicellulose content. By sequencing and mapping, the bc26 gene was tentatively identified as a new allele of the Bc6 gene, caused by the insertion of the Tos17 transposon.
Article
Biochemistry & Molecular Biology
Bo-Yang Shi, Da Pan, Kang-Qin Zhang, Tian-Yu Gu, Darren C. J. Yeo, Peter K. L. Ng, Neil Cumberlidge, Hong-Ying Sun
Summary: This study investigates the evolutionary history and speciation mechanisms of montane potamids in the Hengduan Mountains Region. The results suggest that the vicariance events of these crabs are correlated with the emergence of sky islands due to the uplift of the mountains. The mountain ridges provided corridors for their dispersal and past climatic conditions played a crucial role in their evolutionary history. The mechanisms isolating sky islands are reinforced by the climatic features of dry-hot valleys and continue to affect local diversification.
MOLECULAR PHYLOGENETICS AND EVOLUTION
(2024)
Article
Genetics & Heredity
Katerina S. Kucera, Beth Lincoln Boyea, Brooke Migliore, Sarah Nelson Potter, Veronica R. Robles, Oksana Kutsa, Heidi Cope, Katherine C. Okoniewski, Anne Wheeler, Catherine W. Rehder, Edward C. Smith, Holly L. Peay
Summary: Screening for elevated CK-MM levels in dried blood spots is a feasible method to identify newborns with DMD. Including specific cutoffs, repeat testing, and genetic sequencing can improve the accuracy and sensitivity of screening.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kiely N. James, Shimul Chowdhury, Yan Ding, Sergey Batalov, Kelly Watkins, Yong Hyun Kwon, Lucitia Van Der Kraan, Katarzyna Ellsworth, Stephen F. Kingsmore, Lucia Guidugli
Summary: This study used genome sequencing to detect a wide range of copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types. These genetic alterations accounted for 15.8% of reported variants, with deletions being the most common type. The study also found that additional genetic tests were ordered in some cases, but failed to report the variants detected by genome sequencing.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Asem Berkalieva, Nicole R. Kelly, Ashley Fisher, Samuel F. Hohmann, Monisha Sebastin, Miranda Di Biase, Katherine E. Bonini, Priya Marathe, Jacqueline A. Odgis, Sabrina A. Suckiel, Michelle A. Ramos, Rosamond Rhodes, Noura S. Abul-Husn, John M. Greally, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelb, Bart S. Ferket
Summary: The study aims to understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders. The results showed that patients with positive findings were more likely to receive specialist consultation, but there were no significant increases in overall physician services and costs. More large-scale studies are needed to confirm these findings.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Fernanda M. Garcia, Raquel S. R. Trabach, Victor S. Stange, Bruno Cancian, Alexia S. S. Zetum, Matheus C. Casotti, Flavia I. V. Errera, Elizeu F. de Carvalho, Debora D. Meira, Iuri D. Louro
Summary: This study found that the population of Espirito Santo, Brazil is genetically closer to the Italian population based on the analysis of STR markers on the X chromosome.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2024)
Article
Biochemistry & Molecular Biology
Anna Cho, Denis Tikhonenkov, Gordon Lax, Kristina I. Prokina, Patrick J. Keeling
Summary: Unlike conspicuous ochrophytes, many small and overlooked flagellates belonging to basally branching stramenopiles remain poorly characterized at the cellular or genomic level. This study describes four new species, including two new genera, of sediment-dwelling MAST-6 and provides updated phylogenomic tree of stramenopiles. The characterization of these flagellates is important due to their phylogenetic diversity and abundance in various environments.
MOLECULAR PHYLOGENETICS AND EVOLUTION
(2024)
Article
Genetics & Heredity
Marit A. E. van Bueren, Aniek Janssen
Summary: Eukaryotic nuclei rely on multiple repair pathways to accurately repair DNA damage, particularly in chromatin domains enriched for repetitive DNA sequences. Tailored repair mechanisms are necessary to maintain genome stability in these domains.
Article
Biochemistry & Molecular Biology
Ingrid Olivares, Sergio Tusso, Maria Jose Sanin, Marylaure de La Harpe, Oriane Loiseau, Jonathan Rolland, Nicolas Salamin, Michael Kessler, Kentaro K. Shimizu, Margot Paris
Summary: Traditionally, differences between species have been associated with morphological variation. However, the discovery of cryptic diversity suggests that the evolution of distinct lineages can occur without morphological differences. Through genetic analysis, we found that a tropical montane plant lineage is composed of numerous unrecognized genetic groups that are not morphologically distinct. Geographic distance and topography play a crucial role in determining the genetic divergence of these groups.
MOLECULAR PHYLOGENETICS AND EVOLUTION
(2024)
Article
Genetics & Heredity
Katherine B. Gettings, Martin Bodner, Lisa A. Borsuk, Jonathan L. King, David Ballard, Walther Parson, Corina C. G. Benschop, Claus Borsting, Bruce Budowle, John M. Butler, Kristiaan J. van der Gaag, Peter Gill, Leonor Gusmao, Douglas R. Hares, Jerry Hoogenboom, Jodi Irwin, Lourdes Prieto, Peter M. Schneider, Marielle Vennemann, Christopher Phillips
Summary: The DNA Commission of the ISFG has developed nomenclature recommendations for STR sequences, incorporating research findings and providing guidance for interlaboratory comparisons and the integration of new markers into investigative databases.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2024)
Article
Biochemistry & Molecular Biology
Alexandra A. Grossi, Chunpo Tian, Mengjiao Ren, Fasheng Zou, Daniel R. Gustafsson
Summary: This study suggests that the coevolutionary relationships between chewing lice, endosymbiotic bacteria, and birds are not independent, but the patterns vary depending on the analysis method used. Additionally, louse host-switching does not seem to affect bacterial strains.
MOLECULAR PHYLOGENETICS AND EVOLUTION
(2024)
Article
Biochemistry & Molecular Biology
Ying Qi, Zhaoyan Zhong, Xu Liu, Xing He, Yadong Zhou, Lili Zhang, Chong Chen, Katrin Linse, Jian-Wen Qiu, Jin Sun
Summary: This study investigates the phylogenetic relationships among patellogastropod families using mitochondrial and phylogenomic data. The results show that the mitochondrial phylogeny recovers monophyly of most families, but the relationships among families are still contentious. However, a more robust family-level topology consistent with morphology is achieved by phylogenomics. Additionally, the mainly deep-water families are found to be monophyletic, suggesting a single colonization of the deep water during the Jurassic.
MOLECULAR PHYLOGENETICS AND EVOLUTION
(2024)
