A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

被引：279

作者：

Yamamoto, Shinya ^{[1
,2
,3
]}

Jaiswal, Manish ^{[2
,4
]}

Charng, Wu-Lin ^{[1
,2
]}

Gambin, Tomasz ^{[2
,5
]}

Karaca, Ender ^{[2
]}

Mirzaa, Ghayda ^{[6
,7
]}

Wiszniewski, Wojciech ^{[2
,8
]}

Sandoval, Hector ^{[2
]}

Haelterman, Nele A. ^{[1
]}

Xiong, Bo ^{[1
]}

Zhang, Ke ^{[9
]}

Bayat, Vafa ^{[1
]}

David, Gabriela ^{[1
]}

Li, Tongchao ^{[1
]}

Chen, Kuchuan ^{[1
]}

Gala, Upasana ^{[1
]}

Harel, Tamar ^{[2
,8
]}

Pehlivan, Davut ^{[2
]}

Penney, Samantha ^{[2
,8
]}

Vissers, Lisenka E. L. M. ^{[10
]}

de Ligt, Joep ^{[10
]}

Jhangiani, Shalini N. ^{[11
]}

Xie, Yajing ^{[12
]}

Tsang, Stephen H. ^{[12
,13
]}

Parman, Yesim ^{[14
,15
]}

Sivaci, Merve ^{[16
]}

Battaloglu, Esra ^{[16
]}

Muzny, Donna ^{[2
,11
]}

Wan, Ying-Wooi ^{[3
,17
]}

Liu, Zhandong ^{[3
,18
]}

Lin-Moore, Alexander T. ^{[2
]}

Clark, Robin D. ^{[19
]}

Curry, Cynthia J. ^{[20
,21
]}

Link, Nichole ^{[2
]}

Schulze, Karen L. ^{[2
,4
]}

Boerwinkle, Eric ^{[11
,22
]}

Dobyns, William B. ^{[6
,7
,23
]}

Allikmets, Rando ^{[12
,13
]}

Gibbs, Richard A. ^{[2
,11
]}

Chen, Rui ^{[1
,2
,11
]}

Lupski, James R. ^{[2
,8
,11
]}

Wangler, Michael F. ^{[2
,8
]}

Bellen, Hugo J. ^{[1
,2
,3
,4
,9
,24
]}

机构：

[1] Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA

[4] Howard Hughes Med Inst, Houston, TX 77030 USA

[5] Warsaw Univ Technol, Inst Comp Sci, PL-00661 Warsaw, Poland

[6] Univ Washington, Dept Pediat, Seattle, WA 98195 USA

[7] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98101 USA

[8] Texas Childrens Hosp, Houston, TX 77030 USA

[9] Baylor Coll Med, Program Struct & Computat Biol & Mol Biophys, Houston, TX 77030 USA

[10] Radboudumc, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

[11] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[12] Columbia Univ, Coll Phys & Surg, Dept Ophthalmol, New York, NY 10032 USA

[13] Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, New York, NY 10032 USA

[14] Istanbul Univ, Sch Med, Dept Neurol, TR-34390 Istanbul, Turkey

[15] Istanbul Univ, Sch Med, Neuropathol Lab, TR-34390 Istanbul, Turkey

[16] Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, Turkey

[17] Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX 77030 USA

[18] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[19] Loma Linda Univ, Med Ctr, Dept Pediat, Div Med Genet, Loma Linda, CA 92354 USA

[20] Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA

[21] Genet Med Cent Calif, Fresno, CA 93701 USA

[22] Univ Texas Houston, Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

[23] Univ Washington, Dept Neurol, Seattle, WA 98195 USA

[24] Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA

来源：

CELL | 2014年 / 159卷 / 01期

基金：

美国国家卫生研究院; 美国国家科学基金会;

关键词：

HUMAN NEURODEGENERATIVE DISEASES; X-CHROMOSOME; IN-VIVO; MELANOGASTER; RNAI; MUTATIONS; SCREEN; SYSTEM; COLLECTION; GENOMICS;

D O I：

10.1016/j.cell.2014.09.002

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：200 / 214

页数：15

共 47 条

[1] Coordination of Kinase and Phosphatase Activities by Lem4 Enables Nuclear Envelope Reassembly during Mitosis [J].

Asencio, Claudio ;

Davidson, Iain F. ;

Santarella-Mellwig, Rachel ;

Thi Bach Nga Ly-Hartig ;

Mall, Moritz ;

Wallenfang, Matthew R. ;

Mattaj, Iain W. ;

Gorjanacz, Matyas .

CELL, 2012, 150 (01) :122-135

[2] Whole-Genome Sequencing for Optimized Patient Management [J].

Bainbridge, Matthew N. ;

Wiszniewski, Wojciech ;

Murdock, David R. ;

Friedman, Jennifer ;

Gonzaga-Jauregui, Claudia ;

Newsham, Irene ;

Reid, Jeffrey G. ;

Fink, John K. ;

Morgan, Margaret B. ;

Gingras, Marie-Claude ;

Muzny, Donna M. ;

Hoang, Linh D. ;

Yousaf, Shahed ;

Lupski, James R. ;

Gibbs, Richard A. .

SCIENCE TRANSLATIONAL MEDICINE, 2011, 3 (87)

[3] The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions [J].

Bamshad, Michael J. ;

Shendure, Jay A. ;

Valle, David ;

Hamosh, Ada ;

Lupski, James R. ;

Gibbs, Richard A. ;

Boerwinkle, Eric ;

Lifton, Richard P. ;

Gerstein, Mark ;

Gunel, Murat ;

Mane, Shrikant ;

Nickerson, Deborah A. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (07) :1523-1525

[4] Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans [J].

Bayat, Vafa ;

Thiffault, Isabelle ;

Jaiswal, Manish ;

Tetreault, Martine ;

Donti, Taraka ;

Sasarman, Florin ;

Bernard, Genevieve ;

Demers-Lamarche, Julie ;

Dicaire, Marie-Josee ;

Mathieu, Jean ;

Vanasse, Michel ;

Bouchard, Jean-Pierre ;

Rioux, Marie-France ;

Lourenco, Charles M. ;

Li, Zhihong ;

Haueter, Claire ;

Shoubridge, Eric A. ;

Graham, Brett H. ;

Brais, Bernard ;

Bellen, Hugo J. .

PLOS BIOLOGY, 2012, 10 (03)

[5] TIMELINE 100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the future [J].

Bellen, Hugo J. ;

Tong, Chao ;

Tsuda, Hiroshi .

NATURE REVIEWS NEUROSCIENCE, 2010, 11 (07) :514-+

[6] From first base:: The sequence of the tip of the X chromosome of Drosophila melanogaster, a comparison of two sequencing strategies [J].

Benos, PV ;

Gatt, MK ;

Murphy, L ;

Harris, D ;

Barrell, B ;

Ferraz, C ;

Vidal, S ;

Brun, C ;

Demaille, J ;

Cadieu, E ;

Dreano, S ;

Gloux, S ;

Lelaure, V ;

Mottier, S ;

Galibert, F ;

Borkova, D ;

Miñana, B ;

Kafatos, FC ;

Bolshakov, S ;

Sidén-Kiamos, I ;

Papagiannakis, G ;

Spanos, L ;

Louis, C ;

Madueño, E ;

de Pablos, B ;

Modolell, J ;

Peter, A ;

Schöttler, P ;

Werner, M ;

Mourkioti, F ;

Beinert, N ;

Dowe, G ;

Schäfer, U ;

Jäckle, H ;

Bucheton, A ;

Callister, D ;

Campbell, L ;

Henderson, NS ;

McMillan, PJ ;

Salles, C ;

Tait, E ;

Valenti, P ;

Saunders, RDC ;

Billaud, A ;

Pachter, L ;

Glover, DM ;

Ashburner, M .

GENOME RESEARCH, 2001, 11 (05) :710-730

[7] Drosophila, the golden bug, emerges as a tool for human genetics [J].

Bier, E .

NATURE REVIEWS GENETICS, 2005, 6 (01) :9-23

[8] An optimized transgenesis system for Drosophila using germ-line-specific φC31 integrases [J].

Bischof, Johannes ;

Maeda, Robert K. ;

Hediger, Monika ;

Karch, Francois ;

Basler, Konrad .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (09) :3312-3317

[9]

Boekel Christian, 2008, V420, P119, DOI 10.1007/978-1-59745-583-1_7

[10] Patterns of cell division and expression of asymmetric cell fate determinants in postembryonic neuroblast lineages of Drosophila [J].

Ceron, J ;

González, C ;

Tejedor, FJ .

DEVELOPMENTAL BIOLOGY, 2001, 230 (02) :125-138

← 1 2 3 4 5 →