Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease

J M  Flowers; P N  Leigh; A M  Davies; N N  Ninkina; V L  Buchman; J  Vaughan; N W  Wood; J F  Powell

doi:10.1016/S0304-3940(99)00673-4

Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease

J M Flowers, P N Leigh, A M Davies, N N Ninkina, V L Buchman, J Vaughan, N W Wood, J F Powell

School of Biology

Research output: Contribution to journal › Article › peer-review

16 Citations (Scopus)

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; A(590)C (5'untranslated region), G(1943)C (exon 3), G(2049)A (intron 3), T4502C (intron 3), T(4552)A (exon 4) and C5019T (3'untranslated region). However no associations with disease state were found in our sample group. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.

Original language	English
Pages (from-to)	21-24
Number of pages	4
Journal	Neuroscience Letters
Volume	274
Issue number	1
DOIs	https://doi.org/10.1016/S0304-3940(99)00673-4
Publication status	Published - 15 Oct 1999

Keywords

human persyn gene
polymorphisms
amyotrophic lateral sclerosis
familial Parkinson's disease
MOTOR-NEURON DISEASE
ALPHA-SYNUCLEIN
LEWY BODIES
NERVOUS-SYSTEM
IDENTIFICATION
EXPRESSION
INCLUSIONS
COMPONENT
DEMENTIA
PROTEIN

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/S0304-3940(99)00673-4

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title = "Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease",

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; A(590)C (5'untranslated region), G(1943)C (exon 3), G(2049)A (intron 3), T4502C (intron 3), T(4552)A (exon 4) and C5019T (3'untranslated region). However no associations with disease state were found in our sample group. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.",

keywords = "human persyn gene, polymorphisms, amyotrophic lateral sclerosis, familial Parkinson's disease, MOTOR-NEURON DISEASE, ALPHA-SYNUCLEIN, LEWY BODIES, NERVOUS-SYSTEM, IDENTIFICATION, EXPRESSION, INCLUSIONS, COMPONENT, DEMENTIA, PROTEIN",

author = "Flowers, {J M} and Leigh, {P N} and Davies, {A M} and Ninkina, {N N} and Buchman, {V L} and J Vaughan and Wood, {N W} and Powell, {J F}",

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doi = "10.1016/S0304-3940(99)00673-4",

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T1 - Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease

AU - Flowers, J M

AU - Leigh, P N

AU - Davies, A M

AU - Ninkina, N N

AU - Buchman, V L

AU - Vaughan, J

AU - Wood, N W

AU - Powell, J F

PY - 1999/10/15

Y1 - 1999/10/15

N2 - 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; A(590)C (5'untranslated region), G(1943)C (exon 3), G(2049)A (intron 3), T4502C (intron 3), T(4552)A (exon 4) and C5019T (3'untranslated region). However no associations with disease state were found in our sample group. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.

AB - 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; A(590)C (5'untranslated region), G(1943)C (exon 3), G(2049)A (intron 3), T4502C (intron 3), T(4552)A (exon 4) and C5019T (3'untranslated region). However no associations with disease state were found in our sample group. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.

KW - human persyn gene

KW - polymorphisms

KW - amyotrophic lateral sclerosis

KW - familial Parkinson's disease

KW - MOTOR-NEURON DISEASE

KW - ALPHA-SYNUCLEIN

KW - LEWY BODIES

KW - NERVOUS-SYSTEM

KW - IDENTIFICATION

KW - EXPRESSION

KW - INCLUSIONS

KW - COMPONENT

KW - DEMENTIA

KW - PROTEIN

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DO - 10.1016/S0304-3940(99)00673-4

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JO - Neuroscience Letters

JF - Neuroscience Letters

IS - 1

ER -

Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease

Abstract

Keywords

UN SDGs

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