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Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat
- Source :
- Human Molecular Genetics. 4:1619-1624
- Publication Year :
- 1995
- Publisher :
- Oxford University Press (OUP), 1995.
-
Abstract
- Dentatorubral and pallidoluysian atrophy (DRPLA) belongs to a group of trinucleotide diseases in humans associated with an expanded and unstable (CAG) > 49 repeat within a gene of unknown function. Clinically, DRPLA presents with variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. Hardly anything is known about the physiological function of the DRPLA gene and the pathological mechanisms causing neuronal cell death and leading to these symptoms. To analyze some of these aspects of the DRPLA gene we isolated the complete coding region of the rat DRPLA gene (rdrpla) and investigated its expression in different developmental stages of rodent tissues. The rdrpla gene shows 92% homology in amino acid sequence to the human gene. In rat the length of the (CAG)n repeat is reduced compared to the human (CAG)n block containing 7-34 repeats with an average of 15. Northern blot analysis revealed that in rodents the rdrpla gene is already expressed during embryo development. In addition this transcript is predominantly represented in neuronal tissues throughout all developmental stages investigated.
- Subjects :
- Myoclonus
DNA, Complementary
Cerebellar Ataxia
Molecular Sequence Data
Biology
Homology (biology)
Chorea
Sequence Homology, Nucleic Acid
Gene expression
Genetics
medicine
Animals
Humans
Coding region
Amino Acid Sequence
Northern blot
Cloning, Molecular
Molecular Biology
Gene
Genetics (clinical)
Neurons
Regulation of gene expression
Dentatorubral-pallidoluysian atrophy
Epilepsy
Base Sequence
Cell Death
Sequence Homology, Amino Acid
Cerebellar ataxia
Gene Expression Regulation, Developmental
General Medicine
Blotting, Northern
medicine.disease
Rats
Nerve Degeneration
Dementia
Nervous System Diseases
medicine.symptom
Subjects
Details
- ISSN :
- 14602083 and 09646906
- Volume :
- 4
- Database :
- OpenAIRE
- Journal :
- Human Molecular Genetics
- Accession number :
- edsair.doi.dedup.....c5929b9d68c5eb0147c1d432762bd2f3