Article
Cell Biology
Paul P. R. Iyyanar, Zhaoming Wu, Yu Lan, Yueh-Chiang Hu, Rulang Jiang
Summary: The loss of ALX1 function leads to frontonasal dysplasia syndrome FND3, which is characterized by severe facial clefting and microphthalmia. This study generated an Alx1-deletion mouse model using CRISPR/Cas9-mediated genome editing and found that Alx1 is strongly expressed in frontonasal neural crest cells, playing a role in periocular and frontonasal mesenchyme development. Alx1(del/del) embryos showed increased apoptosis in periocular mesenchyme, decreased expression of ocular developmental regulators Pitx2 and Lmxb1, and disrupted frontonasal mesenchyme identity.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Biology
Yu Zeng, David C. Plachetzki, Kristen Nieders, Hannah Campbell, Marissa Cartee, M. Sabrina Pankey, Kennedy Guillen, Douglas Fudge, Claude Desplan
Summary: When attacked, hagfishes quickly produce a fibrous slime as a defense mechanism. The slime is formed by ejecting mucus and threads into seawater. This biomaterial is believed to have evolved from the epidermis and has a high adhesive property. Transcriptome analysis suggests that the epidermal threads are ancestral to the slime threads, indicating an epidermal origin of hagfish slime.
Article
Multidisciplinary Sciences
Johan Bollen, Marijn ten Thij, Fritz Breithaupt, Alexander T. J. Barron, Lauren A. Rutter, Lorenzo Lorenzo-Luaces, Marten Scheffer
Summary: The study found that over the past 40 years, there has been a rising trend in the prevalence of textual markers of cognitive distortions in society, surpassing levels seen during the Great Depression and both World Wars. This trend does not seem to be driven by changes in word meaning, publishing and writing standards, or the Google Books sample.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Astronomy & Astrophysics
Jose Maria Ezquiaga, Wayne Hu, Macarena Lagos, Meng-Xiang Lin
Summary: This study investigates the cosmological propagation of gravitational waves beyond general relativity, considering scenarios where GWs interact with an additional tensor field using a phenomenological approach. Four distinct classes of interactions are analyzed, and solutions to the equations are obtained analytically and numerically. The study finds that tensor interactions can lead to modified GW signals with potentially different dispersion relations, affecting the coherence and detection of GW events. Various observational probes are discussed for detecting these tensor interactions using both individual GW events and population studies with ground- and space-based detectors.
JOURNAL OF COSMOLOGY AND ASTROPARTICLE PHYSICS
(2021)
Article
Geography, Physical
Gregory Retallack
Summary: Coal balls are calcareous peats with cellular permineralization that are invaluable for understanding the anatomy of Pennsylvanian and Permian fossil plants. They are recognized in both Holocene and Pennsylvanian calcareous Histosols as having two distinct types: respirogenic calcite coal balls and methanogenic calcite coal balls, formed with different soil microbiomes.
PALAEOGEOGRAPHY PALAEOCLIMATOLOGY PALAEOECOLOGY
(2021)
Article
Genetics & Heredity
Yuanying Peng, Honghai Yan, Laichun Guo, Cao Deng, Chunlong Wang, Yubo Wang, Lipeng Kang, Pingping Zhou, Kaiquan Yu, Xiaolong Dong, Xiaomeng Liu, Zongyi Sun, Yun Peng, Jun Zhao, Di Deng, Yinghong Xu, Ying Li, Qiantao Jiang, Yan Li, Liming Wei, Jirui Wang, Jian Ma, Ming Hao, Wei Li, Houyang Kang, Zhengsong Peng, Dengcai Liu, Jizeng Jia, Youliang Zheng, Tao Ma, Yuming Wei, Fei Lu, Changzhong Ren
Summary: This study successfully generated a high-quality reference genome of common oat using new sequencing and technologies. This is of great significance for oat genome research and improvement.
Article
Biology
Hari M. Bharadwaj, Alexandra R. Hustedt-Mai, Hannah M. Ginsberg, Kelsey M. Dougherty, Vijaya Prakash Krishnan Muthaiah, Anna Hagedorn, Jennifer M. Simpson, Michael G. Heinz
Summary: Cross-species experiments on chinchillas and at-risk humans suggest that cochlear synaptopathy from noise exposure and aging are widespread even among individuals with clinically normal hearing status.
COMMUNICATIONS BIOLOGY
(2022)
Article
Chemistry, Multidisciplinary
Bin Pan, Manila Ozhukil Valappil, Richard Rateick, Christopher R. Clarkson, Xia Tong, Chris Debuhr, Amin Ghanizadeh, Viola I. Birss
Summary: This study used an engineered nanoporous carbon scaffold to investigate the nanoscale transport of liquids under applied potential. The results showed that the polarity and magnitude of the potential had an effect on the transport behavior of the liquid.
Article
Cell Biology
Gurmannat Kalra, Daniell Lenz, Dunia Abdul-Aziz, Craig Hanna, Mahashweta Basu, Brian R. Herb, Carlo Colantuoni, Beatrice Milon, Madhurima Saxena, Amol C. Shetty, Ronna Hertzano, Ramesh A. Shivdasani, Seth A. Ament, Albert S. B. Edge
Summary: In this study, we examined the changes in chromatin accessibility and transcriptional programs during the differentiation of cochlear hair cells from postmitotic supporting cells using organoids. We identified Lgr5+ cells as the progenitors for hair cells and revealed the gene regulatory networks involved in their development. The analysis also predicted the involvement of additional regulatory factors in hair cell regeneration. This study provides important insights into the signals for hair cell regeneration from mammalian supporting cells.
Article
Multidisciplinary Sciences
Gabriele Magris, Irena Jurman, Alice Fornasiero, Eleonora Paparelli, Rachel Schwope, Fabio Marroni, Gabriele Di Gaspero, Michele Morgante
Summary: Research indicates that European wine grapes originated from a single domestication event in Western Asia, followed by multiple introgressions from European wild populations. Italy and France have the highest genetic diversity among wine grapes, with the international wine grapes diffusing from Alpine countries worldwide.
NATURE COMMUNICATIONS
(2021)
Article
Biology
Feng Wang, Maria Gracia Gervasi, Ana Boskovic, Fengyun Sun, Vera D. Rinaldi, Jun Yu, Mary C. Wallingford, Darya A. Tourzani, Jesse Mager, Lihua Julie Zhu, Oliver J. Rando, Pablo E. Visconti, Lara Strittmatter, Ingolf Bach
Summary: The X-linked gene Rlim plays a crucial role in maintaining imprinted X chromosome inactivation in female mouse embryos, while also being highly expressed in post-meiotic round spermatids and Sertoli cells in the testes. Systemic deletion of Rlim results in lower numbers of mature sperm with reduced motility, highlighting the importance of Rlim in male reproduction, specifically in round spermatids during spermiogenesis.
Article
Neurosciences
Alessandro Altoe, Karolina K. Charaziak, James B. Dewey, Arturo Moleti, Renata Sisto, John S. Oghalai, Christopher A. Shera
Summary: The mammalian cochlea achieves sensitivity, frequency selectivity, and dynamic range by spatially segregating different frequency components of sound through nonlinear processes. Understanding nonlinear wave interactions requires complex models, and shifting the perspective to spatially distributed processes has important consequences for interpreting psychophysical experiments. The proposed framework provides a simple representation of cochlear signal processing accounting for the effects of nonlinear wave propagation.
JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY
(2021)
Review
Developmental Biology
Yuhkoh Satouh
Summary: This article reports on the study of oocyte activation induced by PLCZ1 in mice, as well as the generation of PLCZ1-deficient mouse models using genome-editing techniques. The findings show that PLCZ1 deficiency in mice leads to subfertility but can be fully restored by intracytoplasmic sperm injection, indicating a PLCZ1-independent oocyte activation mechanism. These findings raise new questions in the field of sperm biology and have implications for the treatment and phenotypic interpretation of oocyte activation failure in patients.
Review
Geosciences, Multidisciplinary
Shizhu Gao, Yinqiu Cui
Summary: Mitochondrial DNA was first successfully extracted from ancient remains 40 years ago, and recent advancements in next-generation sequencing technology and ancient DNA extraction have revolutionized the field of ancient DNA research. Paleogenomic data has provided valuable insights into the origin and evolution of humans, migration and admixture events of populations, and the spread of languages and technologies. China's location in Eurasia has played a crucial role in understanding the genetic history of Eurasians throughout human habitation history. This review focuses on recent progress in paleogenomic analysis to reconstruct the prehistory of China.
FRONTIERS IN EARTH SCIENCE
(2023)
Article
Multidisciplinary Sciences
Joana B. Neves, Kirsty Roberts, Janani Sivakumaran Nguyen, Soha El Sheikh, My-Anh Tran-Dang, Catherine Horsfield, Faiz Mumtaz, Peter Campbell, Hans Stauss, Maxine G. B. Tran, Thomas Mitchell
Summary: This study utilizes genomic and transcriptomic analysis to reveal that SDH-deficient renal cell carcinoma is derived from epithelial cells, possibly from the macula densa, and develops into immune excluded tumors. The study also identifies a highly specific tumor marker, PAPPA2, which has implications for the diagnosis and treatment of this rare tumor subtype.
Article
Genetics & Heredity
Soukaina Elrharchi, Zied Riahi, Sara Salime, Hicham Charoute, Lamiae Elkhattabi, Redouane Boulouiz, Mostafa Kabine, Crystel Bonnet, Christine Petit, Abdelhamid Barakat
Summary: This study identified a disease-segregating mutation in the X-linked AIFM1 gene in Moroccan patients with X-linked auditory neuropathy, predicting its impact on the protein and confirming X-linked dominant inheritance through pedigree analysis.
Article
Otorhinolaryngology
Ghita Amalou, Crystel Bonnet, Zied Riahi, Aymane Bouzidi, Soukaina Elrharchi, Amale Bousfiha, Majida Charif, Mostafa Kandil, Guy Lenaers, Christine Petit, Abdelhamid Barakat
Summary: This study identified a relationship between mutation in the MPZL2 gene and recessive mild to moderate non-syndromic deafness, and first reported the discovery of this mutation in a North African family. Exome sequencing and genotyping results confirmed the pathogenicity of this mutation.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
(2021)
Review
Medicine, Research & Experimental
Aldine R. Amiel, Vincent Michel, Joao E. Carvalho, Marina Shkreli, Christine Petit, Eric Rottinger
Summary: Nematostella, with its unique features of whole-body regeneration, absence of aging signs, and lack of age-related diseases, is a promising research model in regenerative medicine, longevity, and mecano-sensory diseases. It provides new opportunities for scientists to explore these fields in an integrative manner as a complementary model to vertebrates.
M S-MEDECINE SCIENCES
(2021)
Article
Geriatrics & Gerontology
Leo Varnet, Agnes C. Leger, Sophie Boucher, Crystel Bonnet, Christine Petit, Christian Lorenzi
Summary: The decline of speech intelligibility in presbycusis is influenced by audibility-related and age-related factors, with a crucial role played by suprathreshold auditory abilities and cognitive functions. Age and peripheral hearing loss often covary, making it challenging to study the direct effect of aging in presbycusis. Causal-inference analysis showed that pure-tone average had a stronger direct effect on intelligibility scores of hearing-impaired individuals than age, highlighting the importance of audibility in speech perception. The findings suggest the need for wider use of causal-inference analysis in audiology to better understand the cognitive and suprathreshold deficits associated with presbycusis.
FRONTIERS IN AGING NEUROSCIENCE
(2021)
Article
Biochemical Research Methods
Baptiste Colcombet-Cazenave, Karen Druart, Crystel Bonnet, Christine Petit, Olivier Sperandio, Julien Guglielmini, Nicolas Wolff
Summary: HHDs are recently identified orphan domains of about 70 residues, versatile in function and convenient modules to regulate protein-protein interactions, mainly expressed in sensory neurons. Surprisingly, only nine HHDs have been detected in six proteins, highlighting potential for further studies into their functional consequences.
BMC BIOINFORMATICS
(2021)
Review
Genetics & Heredity
Nicolas Michalski, Christine Petit
Summary: Research on inherited hearing disorders has identified numerous causal genes and shown potential for gene therapy in mouse models. Understanding molecular mechanisms of cochlear development and/or physiology has been elucidated, but central auditory dysfunctions may also impact outcomes of peripheral gene therapy for hearing restoration.
Article
Biochemistry & Molecular Biology
Ana Fakin, Crystel Bonnet, Anne Kurtenbach, Saddek Mohand-Said, Ditta Zobor, Katarina Stingl, Francesco Testa, Francesca Simonelli, Jose-Alain Sahel, Isabelle Audo, Eberhart Zrenner, Marko Hawlina, Christine Petit
Summary: A study comparing retinal phenotype characteristics of ADGRV1 and USH2A patients found no significant differences, suggesting that the loss of function of the corresponding proteins produces similar effects in the retina. This information is crucial for counseling ADGRV1 patients, who constitute a minor patient subgroup.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Imane AitRaise, Ghita Amalou, Amale Bousfiha, Hicham Charoute, Hassan Rouba, Houria Abdelghaffar, Crystel Bonnet, Christine Petit, Adbelhamid Barakat
Summary: This study identified the genetic causes of deafness in six Moroccan families using whole exome sequencing and validated mutations in four genes. The results highlight the importance of whole exome sequencing in identifying pathogenic mutations in heterogeneous disorders with multiple genes responsible.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Audiology & Speech-Language Pathology
Olivier Postal, Warren Bakay, Typhaine Dupont, Alexa Buck, Elodie Daoud, Christine Petit, Nicolas Michalski, Boris Gourevitch
Summary: Auditory Brainstem Responses (ABRs) are reliable for measuring auditory thresholds, but cannot detect changes in higher auditory areas. Cortical Auditory Evoked Potentials (CAEPs) capture information from these areas but are less frequently used as diagnostic tools due to their variability. This study developed a consistent measure of subcutaneous CAEPs in mice and determined their origin.
Editorial Material
Medicine, Research & Experimental
Paul Avan, Christine Petit
M S-MEDECINE SCIENCES
(2022)
Article
Multidisciplinary Sciences
Charlotte Calvet, Thibault Peineau, Najate Benamer, Maxence Cornille, Andrea Lelli, Baptiste Plion, Ghizlene Lahlou, Julia Fanchette, Sylvie Nouaille, Jacques Boutet de Monvel, Amrit Estivalet, Philippe Jean, Vincent Michel, Martin Sachse, Nicolas Michalski, Paul Avan, Christine Petit, Didier Dulon, Saaid Safieddine
Summary: This study found that SNAP-25 is essential for normal hearing function by ensuring exocytosis and maintenance of ribbon synapses in IHCs.
Article
Otorhinolaryngology
Malak Salame, Crystel Bonnet, Ely Cheikh Mohamed Moctar, Selma Mohamed Brahim, Abdallahi Dedy, Ledour Abdel Vetah, Fatimetou Veten, Cheikh Tijani Hamed, Christine Petit, Ahmed Houmeida
Summary: In this study, the exon 7 of the LRTOMT gene was screened in a cohort of congenital deaf children from Mauritania, and a novel pathogenic mutation was identified. The mutation was found to disrupt the structure of the encoded protein and early cochlear implant fitting seemed to improve the auditory ability of the mutation carrier. Further screening of deafness genes may reveal other variants underlying hearing impairment in the population.
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
(2023)
Review
Genetics & Heredity
Christine Petit, Crystel Bonnet, Saaid Safieddine
Summary: Progress in genetic studies of SNHI and multidisciplinary studies of mouse models have elucidated the molecular mechanisms underlying auditory system function, leading to the development of inner-ear gene therapy. Preclinical studies have highlighted key translational opportunities and challenges for treating monogenic forms of SNHI and associated balance disorders.
NATURE REVIEWS GENETICS
(2023)
Article
Multidisciplinary Sciences
Philippe Jean, Fabienne Wong Jun Tai, Amrit Singh-Estivalet, Andrea Lelli, Cyril Scandola, Sebastien Megharba, Sandrine Schmutz, Solene Roux, Sabrina Mechaussier, Muriel Sudres, Enguerran Mouly, Anne-Valerie Heritier, Crystel Bonnet, Adeline Mallet, Sophie Novault, Valentina Libri, Christine Petit, Nicolas Michalski
Summary: Functional molecular characterization of the cochlea has mainly been driven by the deciphering of the genetic architecture of sensorineural deafness. By analyzing the single-cell transcriptomic atlas of the mouse cochlea, researchers have identified almost all cochlear cell types and discovered three cell types, providing insights into the gene regulatory networks controlling cochlear cell differentiation and maturation.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Ophthalmology
Vasily M. Smirnov, Marco Nassisi, Saddek Mohand-Said, Crystel Bonnet, Anne Aubois, Celine Devisme, Thilissa Dib, Christina Zeitz, Natalie Loundon, Sandrine Marlin, Christine Petit, Bahram Bodaghi, Jose-Alain Sahel, Isabelle Audo
Summary: This study provides a detailed phenotypic description of rod-cone dystrophy associated with CLRN1 variants. The retinal phenotype includes visual acuity loss, visual field constriction, and retinal degeneration. Four pathogenic variants were identified in the study.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)