Review
Biochemistry & Molecular Biology
Bayan Kharrat, Gabor Csordas, Viktor Honti
Summary: The fruit fly, Drosophila melanogaster, has been a valuable model organism for studying hematopoiesis regulation. The lymph gland of the fly larva exhibits similar features and functions to the hematopoietic stem cell niche in vertebrates. The use of advanced tools in Drosophila research has allowed for a detailed understanding of the cellular composition and regulatory networks in the lymph gland.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Editorial Material
Cell Biology
Tomoyuki Fukuda, Kazuhiro Shiozaki
Summary: The GATOR2 component Sea3 in fission yeast unexpectedly acts as part of GATOR1 to suppress TORC1. In fission yeast, GATOR1 is not required for amino acid starvation-induced TORC1 attenuation, which is mediated by the Gcn2 pathway. Absence of a nitrogen source suppresses TORC1 through GATOR1 and the Tsc1-Tsc2 complex.
Article
Biochemistry & Molecular Biology
Ankita Kapoor, Achalla Padmavathi, Sukanya Madhwal, Tina Mukherjee
Summary: In Drosophila, dopamine, a neurotransmitter, plays a critical role in the development and function of blood-progenitor cells in the specialized organ called lymph gland. These cells are able to synthesize dopamine and have the ability to sense dopamine through receptors and transporters. Modulating the expression of dopamine components affects lymph gland growth, and dopamine is involved in regulating the progression of progenitor cells through different phases of the cell cycle. These findings highlight the novel role of dopamine in the myeloid system and its impact on hematopoietic growth and immunity.
Article
Cell Biology
Rujuta Deshpande, Byoungchun Lee, Yuemeng Qiao, Savraj S. Grewal
Summary: In enteric infection, TOR signaling pathway is induced in fruit flies, leading to an increase in lipid synthesis gene levels and a reduction in host lipid consumption to promote survival.
DISEASE MODELS & MECHANISMS
(2022)
Article
Cell Biology
Changlong An, Baihai Jiao, Hao Du, Melanie Tran, Dong Zhou, Yanlin Wang
Summary: The study investigated the role of PTEN in renal inflammation and fibrosis induced by hypertension, showing that PTEN plays a crucial role in the pathogenesis of renal inflammation and fibrosis by regulating the infiltration of myeloid fibroblasts, macrophages, and T lymphocytes into the kidney.
JOURNAL OF CELLULAR PHYSIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Atsushi Igarashi, Takashi Kato, Hiromi Sesaki, Miho Iijima
Summary: Defects in PTEN, both in its heterozygous and nuclear loss forms, have different effects on organ sizes. While the combination of these defects restored normal brain and neuron sizes, it greatly increased the size of the inguinal lymph node due to lymphoma. PTEN functions antagonistically in the brain but synergistically in the lymph node.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Review
Immunology
Ismael Morin-Poulard, Yushun Tian, Nathalie Vanzo, Michele Crozatier
Summary: In adult mammals, blood cells are formed from hematopoietic stem progenitor cells, which are controlled by a complex cellular microenvironment called niche. Drosophila melanogaster is a powerful model organism to decipher the mechanisms controlling hematopoiesis, due to its limited number of blood cell lineages and the conservation of genes and signaling pathways throughout bilaterian evolution. Hematopoiesis in Drosophila occurs in two waves – during embryogenesis and at larval stages, regulated by distinct niches in different hematopoietic sites.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Multidisciplinary Sciences
Yushun Tian, Ismael Morin-Poulard, Xiaohui Liu, Nathalie Vanzo, Michele Crozatier
Summary: Hematopoietic stem and progenitor cells maintain blood cell homeostasis by integrating mechanical cues from the vascular niche. Mechanical forces are transduced by the Piezo channel, leading to activation of Notch pathway and repression of FGF signaling, which regulate hematopoietic progenitor maintenance.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Multidisciplinary Sciences
Ewa Szlachcic, Maciej J. Danko, Marcin Czarnoleski
Summary: There is a connection between cell size and ageing patterns and mortality rates, with organisms having smaller cells requiring more resources for plasma membrane maintenance, leading to accelerated intrinsic mortality. By rearing fruit flies with small and large cells through the use of rapamycin, it was found that small-celled flies had higher mortality rates in early adulthood.
ROYAL SOCIETY OPEN SCIENCE
(2023)
Article
Pharmacology & Pharmacy
S. Suzuta, H. Nishida, M. Ozaki, N. Kohno, T. D. Le, Y. H. Inoue
Summary: The study found that metformin can suppress muscle aging in adult Drosophila and significantly extend their lifespan. The anti-aging effect of metformin is mediated through the activation of the AMPK-mediated pathway, downregulation of the TOR pathway, induction of autophagy, and partial suppression of protein synthesis in ribosomes.
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
(2022)
Article
Developmental Biology
Vishakha Vishwakarma, Thao Phuong Le, Se Yeon Chung
Summary: During the invagination of Drosophila embryonic salivary gland, the GPCR Smog transduces the Fog signal to regulate Rho kinase accumulation and myosin activation, thereby controlling apical constriction. Smog also plays unexpected roles in maintaining epithelial integrity and organizing cortical actin.
Article
Multidisciplinary Sciences
Clement Immarigeon, Yohan Frei, Sofie Y. N. Delbare, Dragan Gligorov, Pedro Machado Almeida, Jasmine Grey, Lea Fabbro, Emi Nagoshi, Jean-Christophe Billeter, Mariana F. Wolfner, Francois Karch, Robert K. Maeda
Summary: Many transcripts previously considered noncoding RNAs are now found to produce peptides with important biological functions, such as the micropeptide encoded by male-specific abdominal RNA. This micropeptide is expressed exclusively in the secondary cells of the male accessory gland of Drosophila, and its loss of function results in defects in sperm competition, highlighting the importance of small peptides in biological processes.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Review
Medicine, General & Internal
Yaodong Miao, Rui Chen, Xiaolu Wang, Jie Zhang, Weina Tang, Zeyu Zhang, Yaoyuan Liu, Qiang Xu
Summary: The prevalence of diabetes mellitus (DM) is increasing rapidly worldwide, but the underlying molecular mechanisms of disease development have not been elucidated, and the current popular anti-diabetic approaches still have non-negligible limitations. In this article, the Drosophila Diabetes model is introduced, which provides a convenient way to study the mechanisms underlying diabetes and to discover and evaluate new anti-diabetic compounds. The progress in the treatments and experimental studies of diabetes with Traditional Chinese Medicine (TCM) based on the Drosophila Diabetes model is also reviewed, highlighting the undervalued values of TCMs in DM management.
FRONTIERS IN MEDICINE
(2022)
Article
Developmental Biology
Michael F. Rogers, Owen J. Marshall, Julie Secombe
Summary: Histone-modifying proteins, such as KDM5, are crucial for precise regulation of transcriptional programs during development. In this study, the essential roles of the Drosophila Kdm5 ortholog were examined, revealing its involvement in the regulation of mitochondrial gene expression and morphology in the larval neuroendocrine prothoracic gland.
Article
Cell Biology
Dan Ma, Ping Liu, Ping Wang, Zhen Zhou, Qin Fang, Jishi Wang
Summary: The study found that overexpression of PKC-beta is significantly correlated with TKI resistance in CML, with Alox5 and its related pathway playing a key role in this process by activating the ERK1/2 pathway. Inhibition of PKC-beta overexpression could potentially be a novel therapeutic mechanism to overcome TKI resistance in CML.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
Article
Oncology
Laurel Truscott, Joanna Gell, Vivian Y. Chang, Hane Lee, Samuel P. Strom, Rex Pillai, Anthony Sisk, Julian A. Martinez-Agosto, Martin Anderson, Noah Federman
PEDIATRIC BLOOD & CANCER
(2017)
Article
Genetics & Heredity
Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julian A. Martinez-Agosto, Matthew Herzog, Agnes H. Chen, Patricia I. Dickson, Henry J. Lin, Moin U. Vera, Noriko Salamon, Damara Ortiz, Elena Infante, Wouter Steyaert, Bart Dermaut, Bruce Poppe, Hyung-Lok Chung, Zhongyuan Zuo, Pei-Tseng Lee, Oguz Kanca, Fan Xia, Yaping Yang, Edward C. Smith, Joan Jasien, Sujay Kansagra, Gail Spiridigliozzi, Mays El-Dairi, Robert Lark, Kacie Riley, Dwight D. Koeberl, Katie Golden-Grant, Shinya Yamamoto, Michael F. Wangler, Ghayda Mirzaa, Dimitri Hemelsoet, Brendan Lee, Stanley F. Nelson, David B. Goldstein, Hugo J. Bellen, Loren D. M. Pena
AMERICAN JOURNAL OF HUMAN GENETICS
(2018)
Article
Genetics & Heredity
Sureni V. Mullegama, Steven D. Klein, Rebecca H. Signer, Eric Vilain, Julian A. Martinez-Agosto
MOLECULAR GENETICS & GENOMIC MEDICINE
(2019)
Article
Genetics & Heredity
Brian D. Friend, Kami Wolfe Schneider, Timothy Garrington, Laurel Truscott, Julian A. Martinez-Agosto, Robert S. Venick, Eileen Tsai Chambers, Patricia Weng, Douglas G. Farmer, Vivian Y. Chang, Noah Federman
MOLECULAR GENETICS & GENOMIC MEDICINE
(2019)
Article
Genetics & Heredity
Steven D. Klein, Dzung C. Nguyen, Viraj Bhakta, Derek Wong, Vivian Y. Chang, Tom B. Davidson, Julian A. Martinez-Agosto
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2019)
Article
Behavioral Sciences
Aaron D. Besterman, Joshua Sadik, Michael J. Enenbach, Fabiola Quintero-Rivera, Mark DeAntonio, Julian A. Martinez-Agosto
Article
Genetics & Heredity
Nathan Kopp, Ina Amarillo, Julian Martinez-Agosto, Fabiola Quintero-Rivera
Summary: NLGN4X is an X-linked postsynaptic scaffolding protein associated with neuropsychiatric disorders. A female proband with NLGN4X microdeletion inherited from her father showed ASD, while her father exhibited psychiatric phenotypes. This case provides further evidence that NLGN4X is sensitive to dosage changes in females.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Emily K. Mis, Annalisa G. Sega, Rebecca H. Signer, Tracy Cartwright, Weizhen Ji, Julian A. Martinez-Agosto, Stanley F. Nelson, Christina G. S. Palmer, Hane Lee, Thomas Mitzelfelt, Monica Konstantino, Lauren Jeffries, Mustafa K. Khokha, Elysa Marco, Martin G. Martin, Saquib A. Lakhani
Summary: A novel de novo heterozygous NEUROD2 missense variant was found in an adolescent with developmental delay but without seizures, displaying minimal protein activity in functional testing. Another rare NEUROD2 variant identified in an adolescent with developmental delay showed normal NEUROD2 activity, suggesting that NEUROD2 variants can lead to developmental delay without early-onset seizures.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Fabiola Quintero-Rivera, Celeste C. Eno, Christine Sutanto, Kelly L. Jones, Malgorzata J. M. Nowaczyk, Derek Wong, Dawn Earl, Ghayda Mirzaa, Anita Beck, Julian A. Martinez-Agosto
Summary: NSD1 plays a critical role in microduplication 5q35 syndrome, potentially affecting growth and psychiatric phenotypes by altering mTOR pathway signaling. The study also suggests that leucine supplementation may serve as a potential therapeutic approach to ameliorate the symptoms.
Article
Genetics & Heredity
Celeste C. Eno, Jesper Graakjaer, Dea Svaneby, Mathilde Nizon, Jessica Kianmahd, Rebecca Signer, Julian A. Martinez-Agosto, Fabiola Quintero-Rivera
Summary: Three unrelated patients have similar microdeletions of chromosome 14q32.11 with shared phenotypes, including language and developmental delay. Four overlapping genes in the deletion region are expressed in the brain and have haploinsufficiency scores, suggesting a potential influence on the resulting phenotype. This microdeletion may be associated with developmental and language delay based on the lack of normal variation in this region and the patients' similar phenotypes.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Thomas W. Frazier, Ritika Jaini, Robyn M. Busch, Matthew Wolf, Tammy Sadler, Patricia Klaas, Antonio Y. Hardan, Julian A. Martinez-Agosto, Mustafa Sahin, Charis Eng
Summary: This study investigated differences in PTEN pathway protein levels in PTEN-ASD, PTEN no-ASD, and macro-ASD patients, and the associations between these protein levels and neurobehavioral functions. Results showed decreased levels of PTEN and S6 in PTEN mutation groups, while reductions in MnSOD and increases in P-S6 were observed in ASD groups. The study suggests that molecular measures contribute significantly to predicting neurobehavioral outcomes.
Article
Genetics & Heredity
Mirko Uljarevic, Thomas W. Frazier, Gaelle Rached, Robyn M. Busch, Patricia Klaas, Siddharth Srivastava, Julian A. Martinez-Agosto, Mustafa Sahin, Charis Eng, Antonio Y. Hardan
Summary: This study provides a comprehensive characterization of distinct RRB domains in individuals with PTEN mutations. Significant group differences were found in RMB, IS, and CI scales, with the PTEN-No ASD group showing lower scores compared to PTEN-ASD and Macro-ASD groups. Despite limitations, important assessment and treatment implications were highlighted in this investigation.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Yue Huang, Katheryn Grand, Virginia Kimonis, Merlin G. Butler, Suparna Jain, Alden Yen-Wen Huang, Julian A. Martinez-Agosto, Stanley F. Nelson, Pedro A. Sanchez-Lara
Summary: The study reports the first case of PWS associated with a de novo mosaic nonsense variant of the SNRPN gene, suggesting that gene sequencing should be considered in patients with clinical suspicion of PWS.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Cell Biology
Jamie Lee, Joshua Zhang, Maeve Flanagan, Julian A. Martinez, Christopher Cunniff, Nicole Kucine, Ake T. Lu, Amin Haghani, Juozas Gordevicius, Steve Horvath, Vivian Y. Chang
Summary: Bloom syndrome (BSyn) is caused by variants in the BLM gene and manifests as poor growth, sun sensitivity, mild immunodeficiency, diabetes, and increased cancer risk, particularly leukemias. Our study reveals accelerated epigenetic aging in BSyn patients compared to carriers, as evidenced by multiple measures in blood lymphocytes. Additionally, homozygous Blm mice exhibit accelerated methylation age in various tissues according to the brain methylation clock. Overall, Bloom syndrome is associated with accelerated epigenetic aging effects in multiple tissues and significant impact on CpG methylation levels.
Article
Genetics & Heredity
Kim M. Keppler-Noreuil, Julian A. Martinez-Agosto, Louanne Hudgins, John C. Carey
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2017)