Review
Genetics & Heredity
Vladimir B. Seplyarskiy, Shamil Sunyaev
Summary: Genome-scale sequencing data has revealed statistical properties of mutagenesis in humans, including variation of mutation rate and spectrum along the genome at different scales in relation to epigenomic features and dependency on parental age. Statistical analyses interpreting these patterns in context of known biochemistry can provide mechanistic models of mutagenesis in humans.
NATURE REVIEWS GENETICS
(2021)
Review
Biochemistry & Molecular Biology
Jiahui Zhu, Lexin Liu, Xiaodi Ma, Xinyu Cao, Yu Chen, Xiangping Qu, Ming Ji, Huijun Liu, Chi Liu, Xiaoqun Qin, Yang Xiang
Summary: The mortality rate of idiopathic pulmonary fibrosis (IPF) increases yearly due to ineffective treatment. Oxidative stress, especially DNA stimulation, plays a crucial role in pulmonary fibrosis. DNA damage is important in the initiation of IPF and DNA repair systems targeting damage are crucial for lung cell survival. However, existing research has not focused on the role of DNA damage and repair pathways in IPF.
Article
Cell Biology
Shaymaa Hegazy, Randall E. Brand, Beth Dudley, Eve Karloski, Rohit Bhargava, Esther Elishaev, Reetesh K. Pai
Summary: Research shows that MMR-deficient non-neoplastic endometrial glands are indicative of LS, with a pattern of contiguous large groups in the endometrium.
Article
Biotechnology & Applied Microbiology
Martina Fiumara, Samuele Ferrari, Attya Omer-Javed, Stefano Beretta, Luisa Albano, Daniele Canarutto, Angelica Varesi, Chiara Gaddoni, Chiara Brombin, Federica Cugnata, Erika Zonari, Matteo Maria Naldini, Matteo Barcella, Bernhard Gentner, Ivan Merelli, Luigi Naldini
Summary: Base and prime editors have shown potential for precise genetic engineering, but their cellular responses and genotoxicity are not well understood. This study compared the efficiency, toxicity, and genotoxicity between base and prime editors and Cas9 in human hematopoietic cells. The findings suggest that these editors can induce harmful effects and genotoxicity, raising concerns for their clinical applications.
NATURE BIOTECHNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Rong Bu, Abdul K. Siraj, Sandeep Kumar Parvathareddy, Kaleem Iqbal, Saud Azam, Zeeshan Qadri, Maha Al-Rasheed, Wael Haqawi, Mark Diaz, Khadija Alobaisi, Padmanaban Annaiyappanaidu, Nabil Siraj, Hamed AlHusaini, Osama Alomar, Ismail A. Al-Badawi, Fouad Al-Dayel, Khawla S. Al-Kuraya
Summary: This study investigated the frequency of LS in EC patients from Saudi Arabia and found that the prevalence of LS was low, with LLS being as common as LS in this population.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Lizhen Wu, Vipul Shukla, Anurupa Devi Yadavalli, Ravi K. Dinesh, Dijin Xu, Anjana Rao, David G. Schatz
Summary: The DNA repair factor HMCES can strongly suppress deletions, facilitating the production of antigen-specific antibodies. Their findings propose a novel model for protecting Ig gene integrity during SHM.
GENES & DEVELOPMENT
(2022)
Article
Biochemistry & Molecular Biology
Sunbok Jang, Matthew A. Schaich, Cindy Khuu, Brittani L. Schnable, Chandrima Majumdar, Simon C. Watkins, Sheila S. David, Bennett Van Houten
Summary: The study reveals that UV-DDB can stimulate MUTYH turnover rate, increase complex formation between MUTYH and UV-DDB, and enhance MUTYH mobility and dissociation rate during 8-oxoG:A repair, suggesting a facilitative role of UV-DDB in MUTYH activity at abasic sites.
NUCLEIC ACIDS RESEARCH
(2021)
Review
Oncology
Cristina Mitric, Lina Salman, Lusine Abrahamyan, Soyoun Rachel Kim, Petros Pechlivanoglou, Kelvin K. W. Chan, Lilian T. Gien, Sarah E. Ferguson
Summary: The study investigates the prevalence of mismatch repair protein deficiency (MMRd), microsatellite instability (MSI), and Lynch syndrome (LS) in epithelial ovarian cancer (EOC) and their diagnostic accuracy. It also examines the prevalence of MMRd, MSI-high, and LS in synchronous ovarian endometrial cancer and in histological subtypes.
GYNECOLOGIC ONCOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Kefei Yu
Summary: This mini review discusses recent advances in understanding the function and regulation of AID in B cells, including its molecular structure, advances in high throughput techniques, and the mechanism of AID-mediated class switch recombination. These studies have provided insights into the biochemical properties and function of AID.
ACTA BIOCHIMICA ET BIOPHYSICA SINICA
(2022)
Article
Oncology
Romy Walker, Khalid Mahmood, Julia Como, Mark Clendenning, Jihoon E. Joo, Peter Georgeson, Sharelle Joseland, Susan G. Preston, Bernard J. Pope, James M. Chan, Rachel Austin, Jasmina Bojadzieva, Ainsley Campbell, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T. Harris, Emilia Ip, Judy Kirk, Julia Mansour, Helen Mar Fan, Cassandra Nichols, Nicholas Pachter, Abiramy Ragunathan, Allan Spigelman, Rachel Susman, Michael Christie, Mark A. Jenkins, Rish K. Pai, Christophe Rosty, Finlay A. Macrae, Ingrid M. Winship, Daniel D. Buchanan, ANGELS Study
Summary: This study examined the effectiveness of Lynch syndrome-specific tumor features in classifying MMR gene variants of uncertain clinical significance. The findings confirmed that identifying these features can improve the classification of MMR variants and enable optimal clinical care.
Article
Oncology
Heather Hampel, Rachel Pearlman, Albert de la Chapelle, Colin C. Pritchard, Weiqiang Zhao, Dan Jones, Ahmet Yilmaz, Wei Chen, Wendy L. Frankel, Adrian A. Suarez, Casey Cosgrove, Floor Backes, Larry Copeland, Jeffrey Fowler, David O'Malley, Ritu Salani, Joseph P. McElroy, Peter P. Stanich, Paul Goodfellow, David E. Cohn
Summary: The study revealed that double somatic MMR gene PV are as common as Lynch syndrome among endometrial cancer patients. Paired tumor and germline testing for patients with non-methylated dMMR tumor may be the most efficient approach for Lynch syndrome screening.
GYNECOLOGIC ONCOLOGY
(2021)
Article
Oncology
Neil A. J. Ryan, Thomas D. J. Walker, James Bolton, Natalja ter Haar, Tom Van Wezel, Mark A. Glaire, David N. Church, D. Gareth Evans, Tjalling Bosse, Emma J. Crosbie
Summary: Endometrial cancers can arise from somatic events or Lynch syndrome, with distinct molecular and pathological features between the two. These differences may lead to heterogenous responses to treatments and clinical trial outcomes.
Article
Microbiology
Almaz Nigatu Tesfahun, Marina Alexeeva, Migle Tomkuviene, Aysha Arshad, Prashanna Guragain, Arne Klungland, Saulius Klimasauskas, Peter Ruoff, Svein Bjelland
Summary: Mis-insertion by DNA polymerase III can lead to all possible non-cognate base pairs in DNA, resulting in base substitutions if not corrected by exonuclease or mismatch repair. In vitro evidence suggests that the C.C mismatch can be processed by base excision repair initiated by E. coli formamidopyrimidine-DNA glycosylase (Fpg). Fpg may play a role in resolving C.C and other pyrimidine.pyrimidine mismatches, increasing survival at the expense of some mutagenesis.
FRONTIERS IN MICROBIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Luigi Magrin, Daniele Fanale, Chiara Brando, Lidia Rita Corsini, Ugo Randazzo, Marianna Di Piazza, Vittorio Gurrera, Erika Pedone, Tancredi Didier Bazan Russo, Salvatore Vieni, Gianni Pantuso, Antonio Russo, Viviana Bazan
Summary: The MUTYH gene is involved in the repair of DNA damage and its mutations are associated with colorectal polyposis and cancer. Carriers of MUTYH mutations have an increased risk of colorectal cancer and other types of tumors. Recent studies have also found an increased genetic susceptibility to cancer in carriers of monoallelic MUTYH mutations. MUTYH may also be involved in other biological functions.
Review
Biochemistry & Molecular Biology
Inga R. Grin, Daria V. Petrova, Anton V. Endutkin, Chunquan Ma, Bing Yu, Haiying Li, Dmitry O. Zharkov
Summary: Base excision DNA repair is an important pathway in safeguarding the genome of plants, and understanding their repair mechanisms is crucial for developing new crop varieties.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)