Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development
Autoři:
Tanzeen Yusuff aff001; Matthew Jensen aff001; Sneha Yennawar aff001; Lucilla Pizzo aff001; Siddharth Karthikeyan aff001; Dagny J. Gould aff001; Avik Sarker aff001; Erika Gedvilaite aff001; Yurika Matsui aff001; Janani Iyer aff001; Zhi-Chun Lai aff001; Santhosh Girirajan aff001
Působiště autorů:
Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania, United States of America
aff001; Department of Biology, Pennsylvania State University, University Park, Pennsylvania, United States of America
aff002; Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania, United States of America
aff003
Vyšlo v časopise:
Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development. PLoS Genet 16(6): e32767. doi:10.1371/journal.pgen.1008792
Kategorie:
Research Article
doi:
https://doi.org/10.1371/journal.pgen.1008792
Souhrn
While rare pathogenic copy-number variants (CNVs) are associated with both neuronal and non-neuronal phenotypes, functional studies evaluating these regions have focused on the molecular basis of neuronal defects. We report a systematic functional analysis of non-neuronal defects for homologs of 59 genes within ten pathogenic CNVs and 20 neurodevelopmental genes in Drosophila melanogaster. Using wing-specific knockdown of 136 RNA interference lines, we identified qualitative and quantitative phenotypes in 72/79 homologs, including 21 lines with severe wing defects and six lines with lethality. In fact, we found that 10/31 homologs of CNV genes also showed complete or partial lethality at larval or pupal stages with ubiquitous knockdown. Comparisons between eye and wing-specific knockdown of 37/45 homologs showed both neuronal and non-neuronal defects, but with no correlation in the severity of defects. We further observed disruptions in cell proliferation and apoptosis in larval wing discs for 23/27 homologs, and altered Wnt, Hedgehog and Notch signaling for 9/14 homologs, including AATF/Aatf, PPP4C/Pp4-19C, and KIF11/Klp61F. These findings were further supported by tissue-specific differences in expression patterns of human CNV genes, as well as connectivity of CNV genes to signaling pathway genes in brain, heart and kidney-specific networks. Our findings suggest that multiple genes within each CNV differentially affect both global and tissue-specific developmental processes within conserved pathways, and that their roles are not restricted to neuronal functions.
Klíčová slova:
Apoptosis – Drosophila melanogaster – Eyes – Genetic networks – Hedgehog signaling – Notch signaling – Phenotypes – RNA interference
Zdroje
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