A5070713647- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Reproductive biology and impacts on aquatic species
- RNA Research and Splicing
- RNA modifications and cancer
- CRISPR and Genetic Engineering
- Fish Biology and Ecology Studies
- Genetic and Kidney Cyst Diseases
- Genomics and Rare Diseases
- Fish Ecology and Management Studies
- Genomics and Chromatin Dynamics
- Viral Infectious Diseases and Gene Expression in Insects
- Aquaculture Nutrition and Growth
- Mycobacterium research and diagnosis
- Nuclear Structure and Function
- Cytomegalovirus and herpesvirus research
- Neuroblastoma Research and Treatments
- RNA and protein synthesis mechanisms
- Sperm and Testicular Function
- Microbial Metabolism and Applications
- Muscle Physiology and Disorders
- Virus-based gene therapy research
- Glioma Diagnosis and Treatment
- MicroRNA in disease regulation
- Vibrio bacteria research studies
Inserm
2020-2024
Centre National de la Recherche Scientifique
2020-2024
Université Claude Bernard Lyon 1
2020-2024
Centre de Recherche en Neurosciences de Lyon
2020-2024
Nantes Université
2022
Centre Hospitalier Universitaire de Nantes
2022
Gene Therapy Laboratory
2022
Translational Research in Gene Therapy
2022
Fish Physiology and Genomics Institute
2017-2020
Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement
2019
Abstract Background Goldfish is an important model for various areas of research, including neural development and behavior a species significant importance in aquaculture, especially as ornamental species. It has male heterogametic (XX/XY) sex determination system that relies on both genetic environmental factors, with high temperatures being able to produce female-to-male reversal. Little, however, currently known the molecular basis this cyprinid model. Here we used sequencing approaches...
In the human genome, about 750 genes contain one intron excised by minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its noncoding gene, RNU4ATAC, has been found mutated in Taybi-Linder (TALS/microcephalic osteodysplastic primordial dwarfism type 1), Roifman (RFMN), and Lowry-Wood (LWS) syndromes. These rare developmental disorders, whose physiopathological mechanisms remain unsolved, associate ante- post-natal growth retardation, microcephaly, skeletal...
Biallelic variants in RNU4ATAC, a non-coding gene transcribed into the minor spliceosome component U4atac snRNA, are responsible for three rare recessive developmental diseases, namely Taybi-Linder/MOPD1, Roifman and Lowry-Wood syndromes. Next-generation sequencing of clinically heterogeneous cohorts (children with either suspected genetic disorder or congenital microcephaly) recently identified mutations this gene, illustrating how profoundly these technologies modifying testing assessment....
Abstract The Taybi-Linder syndrome (TALS) is a rare genetic disorder characterized by severe microcephaly with abnormal gyral pattern, growth retardation, bone abnormalities and reduced life span for the most cases. It caused mutations in RNU4ATAC whose transcript, small nuclear RNA U4atac, core component of minor spliceosome involved excision introns spread over ∼750 genes. Here, we report patient presenting TALS features but no mutation ; instead, she carries RTTN c.2953A>G variant at...
Taybi-Linder syndrome (TALS) is a rare autosomal recessive disorder characterized by severe microcephaly with abnormal gyral pattern, growth retardation and bone abnormalities. It caused pathogenic variants in the RNU4ATAC gene. Its transcript, small nuclear RNA U4atac, involved excision of ~850 minor introns. Here, we report patient presenting TALS features but no were found , instead homozygous RTTN c.2953A>G variant was detected whole-exome sequencing. After deciphering impact on...
Abstract Background Goldfish is an important model for various areas of research, including neural development and behavior a species significant importance in aquaculture, especially as ornamental species. It has male heterogametic (XX/XY) sex determination system that relies on both genetic environmental factors, with high temperatures being able to produce female-to-male reversal. Little, however, currently known the molecular basis this cyprinid model. We used sequencing approaches...
Abstract In the human genome, about 750 genes contain one intron excised by minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its non-coding gene, RNU4ATAC , has been found mutated in Taybi-Linder (MOPD1/TALS), Roifman (RFMN) and Lowry-Wood syndromes (LWS). These rare developmental disorders, whose physiopathological mechanisms remain unsolved, associate ante- post-natal growth retardation, microcephaly, skeletal dysplasia, intellectual disability,...
Les Nouvelles suivantes ont été rédigées par les étudiants de Master 1 biologie l’École normale supérieure Lyon à l’issue l’UE microbiologie moléculaire et structurale (2017-18). Le l’ENS Lyon, cohabilité l’université Claude Bernard 1, accueille chaque année environ 50 en M1 M2 propose une formation haut niveau la recherche biosciences. Chaque étudiant y construit son parcours carte choisissant ses options parmi un large panel modules, favorisant ainsi approche pluridisciplinaire des...