Bovine CACNA1A gene and comparative analysis of the CAG repeats associated to human spinocerebellar ataxia type-6

Andrés-Mateos, Eva; Cruces, Jesús; Renart, Jaime; Solís-Garrido, Luisa M.; Serantes, Rocío; Lucas-Cerrillo, Ana M. de; Montiel, Carmen

doi:10.1016/j.gene.2006.06.003

Cited by 3 publications

(4 citation statements)

References 35 publications

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“…However, the functional properties of human Cav2.1 harboring a pathological polyQ expansion are not affected in Purkinje cells isolated from a knock-in mouse model of SCA6 (Saegusa et al, 2007). Unlike many other species, the rat and mouse Cacna1a genes are devoid of CAG repeats (Andrés-Mateos et al, 2006), thus precluding the additional level of complexity of 1ACT functions brought by the polyQ expansion. Rat Cav2.1 with an extended C-terminus encoded by exon 47 (called herein Cav2.1(e47)) ( Fig.…”

mentioning

confidence: 99%

Cav2.1 C‐terminal fragments produced in Xenopus laevis oocytes do not modify the channel expression and functional properties

Ménard

Charnet

Rousset

et al. 2020

Eur J of Neuroscience

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mentioning

confidence: 99%

Cav2.1 C‐terminal fragments produced in Xenopus laevis oocytes do not modify the channel expression and functional properties

Ménard

Charnet

Rousset

et al. 2020

Eur J of Neuroscience

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“…There is a 92% shared identity with the human ortholog of this gene, which is down-regulated in Huntington's disease and up-regulated in Parkinson's disease and ALS [43,50]. Mutations in this gene have been reported as causal in spinocerebellar ataxia type 6 in humans [51]. This gene has over 1400 SNPs implicated in Parkinson's disease, tabulated through meta-analyses [52,53].…”

Section: Candidate Gene Listmentioning

confidence: 99%

“…Calcium channels play an important role in the regulation of a variety of cellular functions such as membrane depolarization, muscle contraction, and synaptic transmission, as they are involved in the control of neurotransmitter release from neurons [49]. Mutations in the CACNA1A gene are implicated as causal for spinocerebellar ataxia type 6 in humans [51]. Spinocerebellar ataxia type 6 in humans is an autosomal dominant disorder that is progressive and degenerative in nature, with an average age of onset of 43 to 52 years [51,62].…”

Section: Mapping Snps To Genesmentioning

confidence: 99%

“…Mutations in the CACNA1A gene are implicated as causal for spinocerebellar ataxia type 6 in humans [51]. Spinocerebellar ataxia type 6 in humans is an autosomal dominant disorder that is progressive and degenerative in nature, with an average age of onset of 43 to 52 years [51,62]. Additionally, a mouse knockout study [49] reported that CACNA1A knockout results in ataxia and death through the removal of channelmediated neurotransmission.…”

Section: Mapping Snps To Genesmentioning

confidence: 99%

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Investigating the Genetic Background of Spastic Syndrome in North American Holstein Cattle Based on Heritability, Genome-Wide Association, and Functional Genomic Analyses

Neustaeter

Brito

Baird

et al. 2023

Genes

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Spastic syndrome is a chronic, progressive disorder of adult cattle characterized by episodes of sudden involuntary muscle contractions or spasms of the extensor and abductor muscles of one or both hind limbs. In this study, a case-control genome-wide association study (GWAS) was performed on an adult Holstein cattle cohort. Based on the 50 K and high-density (HD) SNP panel GWAS, we identified 98 and 522 SNPs, respectively. The most significant genomic regions identified are located on BTA9 at approximately 87 megabase pairs (Mb) and BTA7 between 1 and 20 Mb. Functional analyses of significant SNPs identified genes associated with muscle contraction, neuron growth or regulation, and calcium or sodium ion movement. Two candidate genes (FIG4 and FYN) were identified. FIG4 is ubiquitously expressed in skeletal muscle and FYN is involved with processes such as forebrain development, neurogenesis, locomotion, neurogenesis, synapse development, neuron migration, and the positive regulation of neuron projection development. The CACNA1A gene, which codes for a calcium channel subunit protein in the calcium signaling pathway, seems the most compelling candidate gene, as many calcium ion channel disorders are non-degenerative, and produce spastic phenotypes. These results suggest that spastic syndrome is of polygenic inheritance, with important genomic areas of interest on BTA7 and BTA9.

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Identification of microsatellites in cattle unigenes

Zhang

et al. 2008

Journal of Genetics and Genomics

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Bovine CACNA1A gene and comparative analysis of the CAG repeats associated to human spinocerebellar ataxia type-6

Cited by 3 publications

References 35 publications

Cav2.1 C‐terminal fragments produced in Xenopus laevis oocytes do not modify the channel expression and functional properties

Cav2.1 C‐terminal fragments produced in Xenopus laevis oocytes do not modify the channel expression and functional properties

Investigating the Genetic Background of Spastic Syndrome in North American Holstein Cattle Based on Heritability, Genome-Wide Association, and Functional Genomic Analyses

Identification of microsatellites in cattle unigenes

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