Topics

NCBP2modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models.

07:00 EST 13th February 2020 | BioPortfolio

Summary of "NCBP2modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models."

The 1.6 Mbp deletion on chromosome 3q29 is associated with a range of neurodevelopmental disorders, including schizophrenia, autism, microcephaly, and intellectual disability. Despite its importance towards neurodevelopment, the role of individual genes, genetic interactions, and disrupted biological mechanisms underlying the deletion have not been thoroughly characterized. Here, we used quantitative methods to assay Drosophila melanogaster and Xenopus laevis models with tissue-specific individual and pairwise knockdown of 14 homologs of genes within the 3q29 region. We identified developmental, cellular, and neuronal phenotypes for multiple homologs of 3q29 genes, potentially due to altered apoptosis and cell cycle mechanisms during development. Using the fly eye, we screened for 314 pairwise knockdowns of homologs of 3q29 genes and identified 44 interactions between pairs of homologs and 34 interactions with other neurodevelopmental genes. Interestingly, NCBP2 homologs in Drosophila (Cbp20) and X. laevis (ncbp2) enhanced the phenotypes of homologs of the other 3q29 genes, leading to significant increases in apoptosis that disrupted cellular organization and brain morphology. These cellular and neuronal defects were rescued with overexpression of the apoptosis inhibitors Diap1 and xiap in both models, suggesting that apoptosis is one of several potential biological mechanisms disrupted by the deletion. NCBP2 was also highly connected to other 3q29 genes in a human brain-specific interaction network, providing support for the relevance of our results towards the human deletion. Overall, our study suggests that NCBP2-mediated genetic interactions within the 3q29 region disrupt apoptosis and cell cycle mechanisms during development.

Affiliation

Journal Details

This article was published in the following journal.

Name: PLoS genetics
ISSN: 1553-7404
Pages: e1008590

Links

DeepDyve research library

PubMed Articles [3663 Associated PubMed Articles listed on BioPortfolio]

Jmjd6a regulates GSK3β RNA splicing in Xenopus laevis eye development.

It has been suggested that Jmjd6 plays an important role in gene regulation through its demethylation or hydroxylation activity on histone and transcription factors. In addition, Jmjd6 has been shown ...

In Cell NMR Spectroscopy: Investigation of G-Quadruplex Structures Inside Living Xenopus laevis Oocytes.

G-quadruplexes are inherently polymorphic nucleic acid structures. Their folding topology depends on the nucleic acid primary sequence and on physical-chemical environmental factors. Hence, it remains...

Coexposure to environmental concentrations of cis-bifenthrin and graphene oxide: Adverse effects on the nervous system during metamorphic development of Xenopus laevis.

Despite the great concerns associated with the combined biological effects of nanoparticles and insecticides, the current understanding of the corresponding ecological risks remains limited. Xenopus l...

Distinct mA methylome profiles in poly(A) RNA from Xenopus laevis testis and that treated with atrazine.

Recent discovery of reversible N-methyladenosine (mA) methylation on messenger RNA (mRNA) and mapping of mA methylomes in mammals, plant and yeast revealed potential regulatory functions of this RNA m...

Divergent roles of the Wnt/PCP Formin Daam1 in renal ciliogenesis.

Kidneys are composed of numerous ciliated epithelial tubules called nephrons. Each nephron functions to reabsorb nutrients and concentrate waste products into urine. Defects in primary cilia are assoc...

Clinical Trials [1116 Associated Clinical Trials listed on BioPortfolio]

Characterisation of Occupational Allergy to Drosophila

Allergy is a very common problem and can be a handicap in everyday life, specially when symptoms occur at work place. Some persons working with drosophila developed respiratory symptoms. I...

Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widel...

Detection of IKZF1 Deletion Mutation in Patients With Acute Lymphoblastic Leukemia and Its Impact in Therapy

1. To detect IKZF-1 deletion mutations in patients with ALL. 2. To study the impact of IKZF-1 deletion mutation on therapy of ALL. 3. To study the correlation between IKZF-1 deletion...

Genetics and Psychopathology in the 22q11 Deletion Syndrome

The purposes of this study are to: 1. study the nature and longitudinal course of psychiatric symptoms in children with the 22q11.2 deletion syndrome and 2. identify genes...

Safety, Tolerability, and Efficacy of Arbaclofen in 16p11.2 Deletion

This Phase 2 study examines the safety, tolerability, and efficacy of arbaclofen in pediatric subjects with 16p11.2 deletion. Male or female subjects aged 5 to 17 years of age will be rand...

Medical and Biotech [MESH] Definitions

Proteins obtained from various species of Xenopus. Included here are proteins from the African clawed frog (XENOPUS LAEVIS). Many of these proteins have been the subject of scientific investigations in the area of MORPHOGENESIS and development.

The commonest and widest ranging species of the clawed "frog" (Xenopus) in Africa. This species is used extensively in research. There is now a significant population in California derived from escaped laboratory animals.

A class of antimicrobial peptides discovered in the skin of XENOPUS LAEVIS. They kill bacteria by permeabilizing cell membranes without exhibiting significant toxicity against mammalian cells.

A family of the order Anura, distinguished by the lack of a tongue. It includes four living genera of aquatic "toads". Two of the most familiar pipids are the popularly called Surinam "toad" (Pipa pipa) and XENOPUS LAEVIS.

Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.

Quick Search


DeepDyve research library

Relevant Topics

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Psychiatry
Psychiatry is the study of mental disorders and their diagnosis, management and prevention.  Conditions include schizophrenia, severe depression and panic disorders among others. There are pharmaceutical treatments as well as other therapies to help...

Neurology - Central Nervous System (CNS)
Alzheimer's Disease Anesthesia Anxiety Disorders Autism Bipolar Disorders Dementia Epilepsy Multiple Sclerosis (MS) Neurology Pain Parkinson's Disease Sleep Disorders Neurology is the branch of me...


Searches Linking to this Article