Dataset Information

Novel Nonsense Calmodulin-Binding Transcription Activator 1 Mutation Presenting as a Tremor-Predominant Phenotype.

ABSTRACT: A 25-year-old right-handed male presented with head and bilateral arm and leg tremor. His symptoms began at age 10 years with action tremor of both hands and progressed in severity with time. He had difficulty with social interactions but did not have intellectual disabilities. His past medical history was significant for obsessive compulsive disorder and anxiety, asthma, gastroesophageal reflux disease, and scoliosis; and his family history was significant for tremor in his father and paternal grandfather. Genetic testing was performed and identified a deleterious sequence variation in exon 19 of the calmodulin-binding transcription activator 1 (CAMTA1) gene. The presence of this sequence variation was confirmed in the patient and in his affected father. The case is novel because of tremor predominance and because the mutation is a sequence variation rather than a deletion or duplication.

SUBMITTER: Agarwal S

PROVIDER: S-EPMC6353388 | biostudies-literature | 2016 Nov-Dec

REPOSITORIES: biostudies-literature

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Novel Nonsense Calmodulin-Binding Transcription Activator 1 Mutation Presenting as a Tremor-Predominant Phenotype.

Agarwal Shashank S Gilbert Rebecca R Lau Heather A HA

Movement disorders clinical practice 20160311 6

A 25-year-old right-handed male presented with head and bilateral arm and leg tremor. His symptoms began at age 10 years with action tremor of both hands and progressed in severity with time. He had difficulty with social interactions but did not have intellectual disabilities. His past medical history was significant for obsessive compulsive disorder and anxiety, asthma, gastroesophageal reflux disease, and scoliosis; and his family history was significant for tremor in his father and paternal ...[more]

PMID: 30838254

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Project description:Screening of cDNA expression libraries with labelled calmodulin (CaM) as a probe resulted in the isolation of cDNA encoding proteins designated CAMTA (for calmodulin-binding transcription activators). The Arabidopsis genome contains 6 members of this protein family (AtCAMTA1-6) all containing in addition to a defined CaM-binding domain a DNA-binding domain and ankyrin-repeat motifs. RT-PCR analysis revealed that all 6 genes are expressed in all organ throughout plant development. Therefore functional regulation of AtCAMTA proteins is likely mediated by second messengers (e.g. calcium/calmodulin signalling) and protein levels rather than by or in addition to gene expression levels. Based on domain organisation and sequence homologies we identified putative members of this protein family in C. elegans and in human. A yeast system was used to express chimeric fusion proteins comprised of the DNA-binding domain of the bacterial LexA protein with various segments of AtCAMTA1. This analysis revealed a distinct domain of AtCAMTA1 capable of activating transcription. Similar results were obtained with two human CAMTA homologues. To identify the gene targets of CAMTA proteins in Arabidopsiswe plan to analyse the transcriptome in loss_of_function and gain_of_function AtCAMTA mutants. For this we have already isolated a T-DNA insertion mutant of AtCAMTA1 (two alleles) and have requested two other insertion mutants of AtCAMTA2 and AtCAMTA3 identified in other labs. Screening for insertion mutants in the three remaining genes is underway. In addition we have initiated a gain_of_function approach in which DL10 proteins are expressed under the control of the dexamethasone-inducible promoter. Genes whose expression will be found modulated in the mutant plants will be considered candidate targets of AtCAMTA proteins. This analysis will complement an in vitro study of DNA-protein interactions to identify target-binding sites (part of the BBSRC funded project). As a first step in the project proposed to GARNet we suggest to compare the transcriptome in WT whole plants (2 weeks old) with that of three T-DNA insertion AtCAMTA mutants and one line expressing AtCAMTA1 under the control of an inducible promoter. Keywords: strain_or_line_design

Dataset Information

Novel Nonsense Calmodulin-Binding Transcription Activator 1 Mutation Presenting as a Tremor-Predominant Phenotype.

Publications

Novel Nonsense Calmodulin-Binding Transcription Activator 1 Mutation Presenting as a Tremor-Predominant Phenotype.

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