Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio

G3 : Genes - Genomes - Genetics
Sarah EdieRoger H Reeves

Abstract

Trisomy for human chromosome 21 (Hsa21) results in Down syndrome (DS), one of the most genetically complex conditions compatible with human survival. Assessment of the physiological consequences of dosage-driven overexpression of individual Hsa21 genes during early embryogenesis and the resulting contributions to DS pathology in mammals are not tractable in a systematic way. A recent study looked at loss-of-function of a subset of Caenorhabditis elegans orthologs of Hsa21 genes and identified ten candidates with behavioral phenotypes, but the equivalent over-expression experiment has not been done. We turned to zebrafish as a developmental model and, using a number of surrogate phenotypes, we screened Hsa21 genes for effects on early embyrogenesis. We prepared a library of 164 cDNAs of conserved protein coding genes, injected mRNA into early embryos and evaluated up to 5 days post-fertilization (dpf). Twenty-four genes produced a gross morphological phenotype, 11 of which could be reproduced reliably. Seven of these gave a phenotype consistent with down regulation of the sonic hedgehog (Shh) pathway; two showed defects indicative of defective neural crest migration; one resulted consistently in pericardial edema; and one was em...Continue Reading

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Citations

May 24, 2018·Diseases·Máté VargaKálmán Tory
Feb 8, 2020·Nature Reviews. Disease Primers·Stylianos E AntonarakisRoger H Reeves
Oct 15, 2020·The EMBO Journal·Julian BuchrieserOlivier Schwartz
Oct 25, 2020·Trends in Genetics : TIG·Anna J MoyerRoger H Reeves
Apr 29, 2021·Nature Microbiology·Thomas P PeacockWendy S Barclay
May 9, 2021·Scientific Reports·Alberto BartoloméUtpal B Pajvani
Jun 11, 2021·The American Journal of Pathology·Arthur ColsonFrédéric Debiève
Jul 12, 2021·Cell Chemical Biology·Erika CeconRalf Jockers
Oct 4, 2021·The EMBO Journal·Maaran Michael RajahOlivier Schwartz

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Methods Mentioned

BETA
transgenic

Software Mentioned

ZFIN
Gene Tools
BLAST
MouseMine
Jam2
Mouse Mine
AddGene

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