ArticleCell2014
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
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Article in Cell, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 244 papers.
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244citing papers in PubMed
13.1field-weighted citation impact, top 1% of its field
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Who cites it
244 citing papers in PubMed, 391 citations in OpenAlex.
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- NECAP antagonizes light-induced Rhodopsin-1 internalization to promote photoreceptor homeostasis.bioRxiv : the preprint server for biology · 2026Article
- Sequence and structural alignments reveal insights into ANKLE2 evolution and function.Protein science : a publication of the Protein Society · 2026Article
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- Transcriptional Control of Lipid Metabolism.Advances in experimental medicine and biology · 2026Review
- Applications and challenges of Drosophila melanogaster as a laboratory model in human cancer research: a narrative review.Discover oncology · 2025Review
- Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila.American journal of human genetics · 2025Article
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- Evaluation of circANKLE2 & circL3MBTL4 -RNAs Expression in Fertile and Infertile Men.Biochemical genetics · 2025Article
- Exploring the versatility ofFly · 2025Review
- Diverse species of animal models in epilepsy research: Progress and perspectives.Zoological research · 2025Review
- Modeling AP2M1 developmental and epileptic encephalopathy in Drosophila.Disease models & mechanisms · 2025Article
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- High-throughput measurement of Drosophila feeding behavior.Cell reports methods · 2025Article
- Revealing the nervous system requirements of Alzheimer's disease risk genes inbioRxiv : the preprint server for biology · 2025Article
- Translation suppresses exogenous target RNA-mediated microRNA decay.Nature communications · 2025Article
- A curated tissue-specific proteome, phosphoproteome, and kinome map of Drosophila melanogaster with an integrated outlook in circadian physiology.Functional & integrative genomics · 2025Article
184 more citing papers are in PubMed but not listed here.
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Authors and funding
43 authors at 13 institutions in 4 countries.
Shinya YamamotoProgram in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA.
Manish JaiswalDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA.
Wu-Lin CharngProgram in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Tomasz GambinDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Institute of Computer Science, Warsaw University of Technology, 00-661 Warsaw, Poland.
Ender KaracaDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Ghayda MirzaaDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Wojciech WiszniewskiDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Hector SandovalDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Nele A HaeltermanProgram in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
Bo XiongProgram in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
Ke ZhangProgram in Structural and Computational Biology and Molecular Biophysics, BCM, Houston, TX 77030, USA.
Vafa BayatProgram in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
Gabriela DavidProgram in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
Tongchao LiProgram in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
Kuchuan ChenProgram in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
Upasana GalaProgram in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
Tamar HarelDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Davut PehlivanDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Samantha PenneyDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Lisenka E L M VissersDepartment of Human Genetics, Radboudumc, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Joep de LigtDepartment of Human Genetics, Radboudumc, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Shalini N JhangianiHuman Genome Sequencing Center, BCM, Houston, TX 77030, USA.
Yajing XieDepartment of Ophthalmology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
Stephen H TsangDepartment of Ophthalmology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
Yesim ParmanNeurology Department and Neuropathology Laboratory, Istanbul University Medical School, Istanbul 34390, Turkey.
Merve SivaciDepartment of Molecular Biology and Genetics, Bogazici University, Istanbul 34342, Turkey.
Esra BattalogluDepartment of Molecular Biology and Genetics, Bogazici University, Istanbul 34342, Turkey.
Donna MuznyDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA.
Ying-Wooi WanJan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA; Department of Obstetrics and Gynecology, BCM, Houston, TX 77030, USA.
Zhandong LiuJan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA; Department of Pediatrics, BCM, Houston, TX 77030, USA.
Alexander T Lin-MooreDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Robin D ClarkDivision of Medical Genetics, Department of Pediatrics, Loma Linda University Medical Center, Loma Linda, CA 92354, USA.
Cynthia J CurryDepartment of Pediatrics, University of California San Francisco, San Francisco, CA 94143, USA; Genetic Medicine Central California, Fresno, CA 93701, USA.
Nichole LinkDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Karen L SchulzeDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA.
Eric BoerwinkleHuman Genome Sequencing Center, BCM, Houston, TX 77030, USA; Human Genetics Center, University of Texas, Health Science Center, Houston, TX 77030, USA.
William B DobynsDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Neurology, University of Washington, Seattle WA 98195, USA.
Rando AllikmetsDepartment of Ophthalmology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA.
Rui ChenProgram in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA.
James R LupskiDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA.
Michael F WanglerDepartment of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: michael.wangler@bcm.edu.
Hugo J BellenProgram in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA; Program in Structural and Computational Biology and Molecular Biophysics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu.
Baylor College of Medicine · USTexas Children's Hospital · USColumbia University · USHoward Hughes Medical Institute · USNeurological Research Institute · USBoğaziçi University · TRRadboud University Nijmegen · NLUniversity of Washington · USIstanbul University · TRLoma Linda University Medical Center · USThe University of Texas Health Science Center at Houston · USUniversity of California, San Francisco · USWarsaw University of Technology · PL
Funding
UNDERSTANDING FXTAS AMONG MALES WITH THE FMR1 PREMUTATIONP30HD024064 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI TOLIAS, KIMBERLY R · 1988 to 2013
$29.4MTransposon induced disruption of most Drosophila genesR01GM067858 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2003 to 2020
$15.7MBaylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MInstrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9MResearch Education and Career Horizons ProgramK12GM084897 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI SIFERS, RICHARD NORMAN, SLAUGHTER, GAYLE · 2008 to 2016
$8.3MSteps towards a paternal gene activation therapy for Angelman syndromeU54HD083092 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN, NEUL, JEFFREY L · 2014 to 2019
$7.8MTherapeutic approaches for ABCA4-associated disordersR24EY019861 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2011 to 2015
$7.2MToward mechanism- and gene-based therapies for retinal degenerationR01EY018213 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2008 to 2026
$6.6MVision Sciences Training GrantT32EY013933 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Carol A. Mason, CAROL M TROY · 2001 to 2026
$5.3MNonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0MGenomic medicine and gene function implementation for an underserved populationR01HG011795 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J, WANGLER, MICHAEL FRANCIS · 2021 to 2025
$4.8MMutidisciplinary Training;Brain Disorders &DevelopmentT32NS043124 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI SWANN, JOHN WILLIAM · 2002 to 2021
$4.6MHoward Hughes Medical InstituteNEI NIH HHS EY019007NEI NIH HHS EY019861NEI NIH HHS EY021163NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY018213NEI NIH HHS R01 EY021163NEI NIH HHS R24 EY019861NEI NIH HHS T32 EY013933NHGRI NIH HHS R01 HG011795NHGRI NIH HHS U54 HG006542NHGRI NIH HHS U54HG006542NICHD NIH HHS 5P30HD024064NICHD NIH HHS P30 HD024064NICHD NIH HHS U54 HD083092NIGMS NIH HHS 1RC4GM096355-01NIGMS NIH HHS 5K12GM084897NIGMS NIH HHS 5R01GM067858NIGMS NIH HHS K12 GM084897NIGMS NIH HHS R01 GM067858NIGMS NIH HHS RC4 GM096355NINDS NIH HHS K08 NS076547NINDS NIH HHS K08NS076547NINDS NIH HHS K23 NS078056NINDS NIH HHS K23NS078056NINDS NIH HHS R01 NS058529NINDS NIH HHS T32 NS043124NINDS NIH HHS T32 NS043124-11
Abstract
Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal mutations on the Drosophila X chromosome to identify genes required for the development, function, and maintenance of the nervous system. We identified 165 genes, most of whose function has not been studied in vivo. In parallel, we investigated rare variant alleles in 1,929 human exomes from families with unsolved Mendelian disease. Genes that are essential in flies and have multiple human homologs were found to be likely to be associated with human diseases. Merging the human data sets with the fly genes allowed us to identify disease-associated mutations in six families and to provide insights into microcephaly associated with brain dysgenesis. This bidirectional synergism between fly genetics and human genomics facilitates the functional annotation of evolutionarily conserved genes involved in human health.
Indexed as
Genetic TestingInheritance PatternsRNA InterferenceAnimalsDiseaseDisease Models, AnimalDrosophila melanogasterHumansX Chromosome
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