A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish

Journal of Human Genetics
Yuta KomoikeToshiyuki Yamamoto

Abstract

Array-based comparative genomic hybridization identified a 2.3-Mb microdeletion of 17p13.2p13.1 in a boy presenting with moderate mental retardation, intractable epilepsy and dysmorphic features. This deletion region was overlapped with the previously proposed shortest region overlapped for microdeletion of 17p13.1 in patients with mental retardation, microcephaly, microretrognathia and abnormal magnetic resonance imaging (MRI) findings of cerebral white matter, in which at least 17 known genes are included. Among them, DLG4/PSD95, GPS2, GABARAP and KCTD11 have a function in neuronal development. Because of the functional importance, we paid attention to DLG4/PSD95 and GABARAP, and analyzed zebrafish in which the zebrafish homolog of human DLG4/PSD95 and GABARAP was knocked down and found that gabarap knockdown resulted in small head and hypoplastic mandible. This finding would be similar to the common findings of the patients with 17p13.1 deletions. Although there were no pathogenic mutations in DLG4/PSD95 or GABARAP in a cohort study with 142 patients with idiopathic developmental delay with/without epilepsy, further studies would be required for genes included in this region.

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Citations

Dec 31, 2011·Human Genetics·Eric W KleeStephen C Ekker
May 20, 2011·American Journal of Medical Genetics. Part a·Keiko ShimojimaToshiyuki Yamamoto
Aug 21, 2012·American Journal of Medical Genetics. Part a·Charles CouttonVéronique Satre
Feb 7, 2014·American Journal of Medical Genetics. Part a·Lucio GiordanoAntonio Novelli
Mar 29, 2014·American Journal of Medical Genetics. Part a·Yukiko KurodaKenji Kurosawa
Aug 16, 2014·American Journal of Medical Genetics. Part a·Kathryn Anne MooneyhamMichael J Lyons
Sep 12, 2012·Autophagy·Daniel J KlionskyBrian Zuckerbraun
Aug 14, 2013·Autophagy·Kim Wager, Claire Russell
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Oct 12, 2016·Nihon eiseigaku zasshi. Japanese journal of hygiene·Yuta Komoike, Masato Matsuoka
Dec 24, 2018·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Srishti ManochaWalid D Fakhouri

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