Literature DB >> 28420493

Etiology of Human Genetic Disease on the Fly.

Clement Y Chow1, Lawrence T Reiter2.   

Abstract

The model organism Drosophila melanogaster has been at the forefront of genetic studies since before the discovery of DNA. Although human disease modeling in flies may still be rather novel, recent advances in genetic tool design and genome sequencing now confer huge advantages in the fly system when modeling human disease. In this review, we focus on new genomic tools for human gene variant analysis; new uses for the Drosophila Genetic Reference Panel (DGRP) in detection of background alleles that influence a phenotype; and several examples of how multigenic conditions, both complex disorders and duplication and/or deletion syndromes, can be effectively studied in the fly model system. Fruit flies are a far cry from the quaint genetic model of the past, but rather, continue to evolve as a powerful system for the study of human genetic disease.
Copyright © 2017 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Drosophila models of disease; MiMIC transposon; background allele screen; copy number variants; variant analysis

Mesh:

Year:  2017        PMID: 28420493     DOI: 10.1016/j.tig.2017.03.007

Source DB:  PubMed          Journal:  Trends Genet        ISSN: 0168-9525            Impact factor:   11.639


  16 in total

1.  De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

Authors:  Debdeep Dutta; Lauren C Briere; Oguz Kanca; Paul C Marcogliese; Melissa A Walker; Frances A High; Adeline Vanderver; Joel Krier; Nikkola Carmichael; Christine Callahan; Ryan J Taft; Cas Simons; Guy Helman; Undiagnosed Diseases Network; Michael F Wangler; Shinya Yamamoto; David A Sweetser; Hugo J Bellen
Journal:  Hum Mol Genet       Date:  2020-06-03       Impact factor: 6.150

2.  Translational Geroscience: From invertebrate models to companion animal and human interventions.

Authors:  Mitchell B Lee; Matt Kaeberlein
Journal:  Transl Med Aging       Date:  2018-08-17

3.  An Unbiased Drug Screen for Seizure Suppressors in Duplication 15q Syndrome Reveals 5-HT1A and Dopamine Pathway Activation as Potential Therapies.

Authors:  Bidisha Roy; Jungsoo Han; Kevin A Hope; Tracy L Peters; Glen Palmer; Lawrence T Reiter
Journal:  Biol Psychiatry       Date:  2020-04-13       Impact factor: 13.382

4.  De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Authors:  Oguz Kanca; Jonathan C Andrews; Pei-Tseng Lee; Chirag Patel; Stephen R Braddock; Anne M Slavotinek; Julie S Cohen; Cynthia S Gubbels; Kimberly A Aldinger; Judy Williams; Maanasa Indaram; Ali Fatemi; Timothy W Yu; Pankaj B Agrawal; Gilbert Vezina; Cas Simons; Joanna Crawford; C Christopher Lau; Wendy K Chung; Thomas C Markello; William B Dobyns; David R Adams; William A Gahl; Michael F Wangler; Shinya Yamamoto; Hugo J Bellen; May Christine V Malicdan
Journal:  Am J Hum Genet       Date:  2019-07-18       Impact factor: 11.025

5.  Anesthetic Preconditioning of Traumatic Brain Injury Is Ineffective in a Drosophila Model of Obesity.

Authors:  Dena Johnson-Schlitz; Julie A Fischer; Hannah J Schiffman; Amanda R Scharenbrock; Zachariah P G Olufs; David A Wassarman; Misha Perouansky
Journal:  J Pharmacol Exp Ther       Date:  2022-03-28       Impact factor: 4.402

Review 6.  Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases.

Authors:  Nichole Link; Hugo J Bellen
Journal:  Development       Date:  2020-09-28       Impact factor: 6.868

7.  FreeClimber: automated quantification of climbing performance in Drosophila.

Authors:  Adam N Spierer; Denise Yoon; Chen-Tseh Zhu; David M Rand
Journal:  J Exp Biol       Date:  2021-01-15       Impact factor: 3.312

Review 8.  Using Drosophila Models of Amyloid Toxicity to Study Autophagy in the Pathogenesis of Alzheimer's Disease.

Authors:  Louise O'Keefe; Donna Denton
Journal:  Biomed Res Int       Date:  2018-05-20       Impact factor: 3.411

Review 9.  Nutrigenomics as a tool to study the impact of diet on aging and age-related diseases: the Drosophila approach.

Authors:  Zoi Evangelakou; Maria Manola; Sentiljana Gumeni; Ioannis P Trougakos
Journal:  Genes Nutr       Date:  2019-05-02       Impact factor: 5.523

Review 10.  Modeling Fragile X Syndrome in Drosophila.

Authors:  Małgorzata Drozd; Barbara Bardoni; Maria Capovilla
Journal:  Front Mol Neurosci       Date:  2018-04-16       Impact factor: 5.639

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