Related Experiment Video
Updated: Aug 10, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial
J M Flowers1, P N Leigh, A M Davies
1Clinical Neurosciences, Institute of Psychiatry and Guy's, King's and St. Thomas' School of Medicine, Denmark Hill, London, UK. spgtjof@iop.kcl.ac.uk
Abstract:
The synucleins are a family of small proteins expressed in nervous tissue, which have been implicated in neurodegeneration. Using single strand conformation polymorphism analysis we screened for polymorphisms and mutations in the gene encoding human persyn, a recently discovered member of the synuclein family, in controls, patients with sporadic or familial amyotrophic lateral sclerosis (ALS) or familial Parkinson's disease (PD). Six polymorphisms in the genomic sequence of persyn were detected; A590C (5' untranslated region), G1943C (exon 3), G2049A (intron 3), T4502C (intron 3), T4552A (exon 4) and C5019T (3' untranslated region). However no associations with disease state were found in our sample group.
Related Concept Videos
Mutations
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Parkinson Disease l: Introduction
Parkinson Disease ll: Pathophysiology

