Article
Multidisciplinary Sciences
Jia-yuan Gong, Cui-jiao Wen, Ming-liang Tang, Rui-fang Duan, Juan-nan Chen, Jia-yu Zhang, Ke-wei Zheng, Yi-de He, Yu-hua Hao, Qun Yu, Su-ping Ren, Zheng Tan
Summary: The study examined the interactions between G-quadruplexes (G4s) and single nucleotide variations (SNVs) and their impact on gene expression, revealing that G4Vs can significantly influence the expression of host genes, particularly near transcription factor binding sites and enhancers. These findings highlight the importance of understanding genetic variations from a structural perspective in relation to physiological function and pathological implications.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Biochemistry & Molecular Biology
Cecilia Zazueta, Alexis Paulina Jimenez-Uribe, Jose Pedraza-Chaverri, Mabel Buelna-Chontal
Summary: The polymorphisms of Nrf2-related genes are associated with cardiometabolic diseases and have an impact on cardiovascular health. Further research on the implications of Nrf2 polymorphisms on cardiometabolic disease progression and prevalence is essential for developing more accurate protective strategies.
Article
Biochemistry & Molecular Biology
Paul Lee, Rita Yim, Sin-Hang Fung, Kai-Kei Miu, Zhangting Wang, Ka-Chun Wu, Lester Au, Garret Man-Kit Leung, Victor Ho-Fun Lee, Harinder Gill
Summary: This study used single-cell sequencing to explore the clonal dynamics of MDS patients during disease progression and resistance to hypomethylating agents (HMAs). The study found that changes in the clonal heterogeneity of certain pathogenic mutations were associated with disease progression and resistance to HMA. Additionally, the acquisition of copy number variations of certain genes was observed during disease progression and resistance to HMA.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Nicoletta Villa, Serena Redaelli, Stefania Farina, Donatella Conconi, Elena Maria Sala, Francesca Crosti, Silvana Mariani, Carla Maria Colombo, Leda Dalpra, Marialuisa Lavitrano, Angela Bentivegna, Gaia Roversi, Mario Ventura
Summary: Complex chromosomal rearrangements are rare events that can occur and be compatible with survival. They involve an imbalance and/or position effect of one or more genes, resulting in a variety of clinical presentations. Investigating and diagnosing these cases can be challenging. Understanding the pairing and segregation patterns of these chromosomes during meiosis is crucial for assessing the risk and type of imbalance in offspring.
Article
Multidisciplinary Sciences
Paul Vigne, Clotilde Gimond, Celine Ferraris, Anne Vielle, Johan Hallin, Ania Pino-Querido, Sonia El Mouridi, Laure Mignerot, Christian Frokjaer-Jensens, Thomas Boulin, Henrique Teotonio, Christian Braendle
Summary: The study reveals that a single amino acid change in a potassium channel subunit can lead to matricidal hatching in nematodes by reducing the sensitivity to environmental stimuli triggering egg-laying, and this trait can be maintained under fluctuating resource availability.
Review
Genetics & Heredity
Mousa Alali, Wouroud Ismail Al-Khalil, Sara Rijjal, Lana Al-Salhi, Maher Saifo, Lama A. Youssef
Summary: This study reviews the frequencies of CYP2D6 alleles in Arab countries and reveals heterogeneity among Arab populations. The variations in allele frequencies between neighboring countries emphasize the importance of harmonizing genotype assignment criteria and conducting comprehensive studies. This knowledge can contribute to improving therapeutic outcomes of CYP2D6-metabolized drugs.
Article
Biochemical Research Methods
Jeerthi Kannan, Liza Mathews, Zhijie Wu, Neal S. Young, Shouguo Gao
Summary: CAISC is an R package that integrates CNV and SNV data from scRNA-seq to identify clonal clusters with high accuracy. It allows for accurate examination of expression changes between subclones.
BMC BIOINFORMATICS
(2022)
Article
Clinical Neurology
Xing-xing Chen, Luo-piao Xu, Chen-chen Zeng, Xing-yan Zhang, Fang-biao Tao, Ying Sun
Summary: The study found that adolescents who experienced prolonged separation from both parents are at heightened risk of pain when carrying more risk alleles related to HPA-axis stress reactivity.
JOURNAL OF AFFECTIVE DISORDERS
(2021)
Article
Biochemical Research Methods
Cosimo Lupo, Natanael Spisak, Aleksandra M. Walczak, Thierry Mora
Summary: Affinity maturation is critical for enhancing antibody binding affinity to antigens. Researchers have developed a probabilistic inference tool to learn the statistics of insertions and deletions (indels) in immunoglobulin genes, which provides insights into the hypermutation process.
PLOS COMPUTATIONAL BIOLOGY
(2022)
Article
Gastroenterology & Hepatology
Huapeng Lin, Grace L-H Wong, Carl Whatling, Anthony W-H Chan, Howard H-W Leung, Chi-Hang Tse, Sally S-T Shu, Angel M-L Chim, Jimmy C-T Lai, Terry C-F Yip, Vincent W-S Wong
Summary: The study found that PNPLA3 rs738409 gene polymorphism has a greater effect on liver fat in Asian lean individuals compared to overweight or obese individuals. The TM6SF2 rs58542926 gene variant is associated with reduced serum triglycerides only in lean individuals. No gene-BMI effect was observed for other gene polymorphisms.
LIVER INTERNATIONAL
(2022)
Article
Multidisciplinary Sciences
Lydia Sagath, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, Katarina Pelin, Kirsi Kiiski
Summary: The human genome contains repetitive regions that pose a challenge for most mutation detection methods. The nebulin gene has a large segmental duplication region composed of eight exons repeated three times. Copy number variations in this region are pathogenic when the deviation is two or more copies from the normal number. A custom Droplet Digital PCR method has been established for the detection of these variations.
Article
Behavioral Sciences
Kuan-Yu Huang, Yu-Jhen Huang, Shaw-Ji Chen, Chieh-Hsin Lin, Hsien-Yuan Lane
Summary: This study aimed to explore the genetic effect of the TSNAX gene on the cognitive functions of patients with schizophrenia. The results showed that TSNAX genetic polymorphisms influenced cognitive function in schizophrenia patients.
PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR
(2023)
Article
Behavioral Sciences
Xusan Xu, Bin He, Jieqing Zeng, Jingwen Yin, Xiaoxia Wang, Xudong Luo, Chunmei Liang, Shucun Luo, Haifeng Yan, Susu Xiong, Zhi Tan, Dong Lv, Zhun Dai, Zhixiong Lin, Juda Lin, Xiaoqing Ye, Riling Chen, You Li, Yajun Wang, Wubiao Chen, Zebin Luo, Keshen Li, Guoda Ma
Summary: This study found an association between the DOCK4 gene and susceptibility to schizophrenia, as well as its relationship with clinical symptoms and brain function in Chinese patients. The selected SNPs were significantly associated with schizophrenia, and T allele carriers had higher scores in letter fluency and motor speed. Brain activity, connectivity, and centrality in certain brain regions were also positively correlated with verbal fluency and motor speed.
BEHAVIOURAL BRAIN RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Qiu-mei Ji, Jin-wei Xin, Zhi-xin Chai, Cheng-fu Zhang, Yangla Dawa, Sang Luo, Qiang Zhang, Zhandui Pingcuo, Min-Sheng Peng, Yong Zhu, Han-wen Cao, Hui Wang, Jian-lin Han, Jin-cheng Zhong
Summary: The yak, an important livestock animal for indigenous people in the Qinghai-Tibetan Plateau and Himalayas, has had its genome sequenced in 2012 with limitations due to Illumina sequencing technology. A new high-quality chromosome-scale yak genome assembly (BosGru_PB_v1.0) was created using long-read sequencing, showing improvements in continuity and gene model completeness. Comparison of domestic and wild yak genomes revealed higher diversity in wild yak despite a genetic bottleneck, with potential for breed-specific gene identification through whole-genome alignment.
MOLECULAR ECOLOGY RESOURCES
(2021)
Article
Biochemistry & Molecular Biology
Jennifer Le, Jung-Hyun Min
Summary: Xeroderma pigmentosum C (XPC) is an important factor in the genome nucleotide excision repair pathway. Mutations in the XPC gene can lead to XP cancer predisposition syndrome, increasing susceptibility to sunlight-induced cancers. The lack of a high-resolution 3D structure for human XPC makes it challenging to assess the impact of mutations/variations on its structure.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
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
Madeline Currey, Ilana Solomon, Sarah Mcgraw, Jenny Shen, Francisco Munoz, Ernesto Sosa, Vanessa Puello-Lozano, Sam Wing, Lisa Lopez, Michelle Afkhami, Janine Lobello, Szabolcs Szelinger, Stacy W. Gray
Summary: This study conducted qualitative interviews with cancer patients and providers to identify gaps in clinical care and propose care delivery solutions for the return of secondary germline findings. The responses of patients varied depending on the amount of pre-test counseling they received, and providers identified insufficient clinic time as a major barrier to pretest education. Online support tools and standardized pre-test education models were favored by providers. There were differing perspectives on how pre-test education should be integrated into clinical workflows, but agreement on the inclusion of differences between somatic and germline testing, likelihood of medically actionable findings, and the possibility of being referred to a genetics provider.
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
Kirstine Stochholm, Camilla Holmgard, Shanlee M. Davis, Claus H. Gravholt, Agnethe Berglund
Summary: This study assessed the incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism and described the associated mortality pattern. The study found an increasing incidence of 45,X/46,XY mosaicism in males and a stable incidence in females. Males were diagnosed at an older age than females. Additionally, 45,X/46,XY mosaicism was associated with increased all-cause mortality.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Yunjia Chen, Ender Karaca, Nathaniel H. Robin, Dana Goodloe, Ali Al-Beshri, S. Joy Dean, Anna C. E. Hurst, Andrew J. Carroll, Fady M. Mikhail
Summary: This study confirms the association between DLG2 intragenic deletions and neurodevelopmental disorders, supports the haploinsufficiency of the DLG2 gene, and suggests a potential association between these deletions and congenital anomalies and dysmorphism.
GENETICS IN MEDICINE
(2024)