Drosophila Mutants Model Cornelia de Lange Syndrome in Growth and Behavior

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Cornelia de Lange Syndrome (CdLS) alters many aspects of growth and development. CdLS is caused by mutations in genes encoding proteins that ensure that chromosomes are distributed equally when a cell divides. These include genes that encode components of the cohesin complex, and Nipped-B-Like (NIPBL) that puts cohesin onto chromosomes. Individuals with CdLS have only modest reductions in the activities of these genes and do not show changes in chromosome distribution. Instead, they show differences in the expression many genes that control development. Animal models of CdLS will be useful for studies aimed at understanding how development is altered, and testing methods for treating CdLS. We find that Drosophila with one mutant copy of the Nipped-B gene, which is equivalent to the NIPBL gene, show characteristics similar to individuals with CdLS. These include reduced growth, learning, memory, and altered circadian rhythms. These studies thus indicate that Drosophila Nipped-B mutants are a valuable system for investigating the causes of the CdLS birth defects, and developing potential treatments. They also reveal that the slow growth in Drosophila Nipped-B mutants is not caused by disruption of systemic hormonal growth controls, and that the learning and memory deficits may reflect changes in brain structure.

Vyšlo v časopise: Drosophila Mutants Model Cornelia de Lange Syndrome in Growth and Behavior. PLoS Genet 11(11): e32767. doi:10.1371/journal.pgen.1005655
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005655

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