Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ)

Abstract

BackgroundWDR81 (WD repeat-containing protein 81) is associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ2, [MIM 610185]). Human and mouse studies suggest that it might be a gene of importance during neurodevelopment. This study aimed at fully characterizing the structure of the wdr81 transcript, detecting the possible transcript variants and revealing its expression profile in zebrafish, a powerful model organism for studying development and disease.ResultsAs expected in human and mouse orthologous proteins, zebrafish wdr81 is predicted to possess a BEACH (Beige and Chediak-Higashi) domain, a major facilitator superfamily domain and WD40-repeats, which indicates a conserved function in these species. We observed that zebrafish wdr81 encodes one open reading frame while the transcript has one 5′ untranslated region (UTR) and the prediction of the 3′ UTR was mainly confirmed along with a detected insertion site in the embryo and adult brain. This insertion site was also found in testis, heart, liver, eye, tail and muscle, however, there was no amplicon in kidney, intestine and gills, which might be the result of possible alternative polyadenylation processes among tissues. The 5 and 18 hpf were critical timepoints of development regarding wdr81 expression. Furthermore, the signal of the RNA probe was stronger in the eye and brain at 18 and 48 hpf, then decreased at 72 hpf. Finally, expression of wdr81 was detected in the adult brain and eye tissues, including but not restricted to photoreceptors of the retina, presumptive Purkinje cells and some neurogenic brains regions.ConclusionsTaken together these data emphasize the importance of this gene during neurodevelopment and a possible role for neuronal proliferation. Our data provide a basis for further studies to fully understand the function of wdr81.Electronic supplementary materialThe online version of this article (doi:10.1186/s12868-015-0229-4) contains supplementary material, which is available to authorized users.

Peptidomic analysis reveals multiple protection of human breast milk on infants during different stages

“…We found that CSN2 was mostly related to immunocompetence and development (Cui et al, ). PKD1 was related to sclerotin development (Xiao et al, ), MX1 was also related to immunocompetence (Haller, Arnheiter, Gresser, & Lindenmann, ; Pichlmair et al, ), GRIN3B and HCFC1 were related to brain development (Hornig et al, ; Jolly et al, ), RANBP9 was related to neurodevelopment, RICTOR was related to muscle development (Suryawan et al, ), as well as WDR81 was related to heart, eyes, and neurodevelopment (Doldur‐Balli et al, ; Traka et al, ). In transitional milk, a total of six peptides derived from four proteins were both located in domains and predicted to be related to neonatal immunity and organ development such as CSN2 and PVRIG were related to immunocompetence and development (Cui et al, ; Levy et al, ), HNRNPK was related to lung development (Yang et al, ), PRDM13 was related to eyes development and lipid metabolism (Manes et al, ; Satoh, Brace, Rensing, & Imai, ).…”

Impact of pressure as a tactile stimulus on working memory in healthy participants

“…Therefore, the absence of absent interaction with pressure x n-back cannot be explained by low salience of the pressure stimulus. However, using constant tactile pressure stimulation in a block design is of risk for a fast adaptation to this stimulus [67]. In this way, the onset of tactile pressure occurrence can be detected in order to report a pressure block, but will not remain an effective distractor during the course of the visual n-back stimulus sequence, with likely effects to both, behavioral performance and brain activity.…”

“…In this way, the onset of tactile pressure occurrence can be detected in order to report a pressure block, but will not remain an effective distractor during the course of the visual n-back stimulus sequence, with likely effects to both, behavioral performance and brain activity. Therefore, the negative results could also be caused by the experimental limitations due to a possible fast reduction of the tactile salience due to sensory adaptation during the course of a single pressure block [67]. Possible experimental improvements for further directions could be providing randomized tactile pressure trials instead of pressure blocks and analyzing the data according to the expected tactile pressure adaptation (i.e.…”