Deletion of the parkin and PACRG gene promoter in early‐onset parkinsonism
Identifieur interne : 002728 ( Main/Curation ); précédent : 002727; suivant : 002729Deletion of the parkin and PACRG gene promoter in early‐onset parkinsonism
Auteurs : Suzanne Lesage [France] ; Periquet Magali [France] ; Ebba Lohmann [France] ; Lucette Lacomblez [France] ; Helio Teive [Brésil] ; Sabine Janin [France] ; Pierre-Yves Cousin [France] ; Alexandra Dürr [France] ; Alexis Brice [France]Source :
- Human Mutation [ 1059-7794 ] ; 2007-01.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Child, DNA Mutational Analysis, EOPD, early‐onset parkinsonism, Female, Gene Deletion, Humans, Male, Middle Aged, Molecular Chaperones (genetics), Parkinson disease, Parkinsonian Disorders (epidemiology), Parkinsonian Disorders (genetics), Pedigree, Promoter Regions, Genetic, Ubiquitin-Protein Ligases (genetics), parkin coregulated gene, PACRG, parkin, PARK2, promoter.
- MESH :
- chemical , genetics : Molecular Chaperones, Ubiquitin-Protein Ligases.
- epidemiology : Parkinsonian Disorders.
- genetics : Parkinsonian Disorders.
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Child, DNA Mutational Analysis, Female, Gene Deletion, Humans, Male, Middle Aged, Pedigree, Promoter Regions, Genetic.
Abstract
Autosomal recessive mutations in the parkin gene (PARK2) have been identified as a common cause of familial and also sporadic, early‐onset parkinsonism (EOPD): point mutations, exonic deletions, and duplications or triplications have been described. Here we report a novel mutation, consisting of a deletion of the promoter and exon 1 of parkin (c.1–?_7+?del), in a family compatible with autosomal recessive EOPD and an isolated case. The former was compound heterozygous for the parkin c.1–?_7+?del mutation and an exon 3 deletion (c.172–?_412+?del). The latter was homozygous for the parkin c.1–?_7+?del mutation. The promoter region is shared by parkin and the neighboring parkin coregulated gene (PACRG), which are oriented head‐to‐head and are transcribed on opposite DNA strands. There were no parkin transcripts in lymphoblasts from the patients carrying the parkin c.1–?_7+?del mutation. The phenotypes of patients with promoter deletions and consequently absence of parkin and possibly PACRG expression, were similar to and no more severe than those of other EOPD patients with parkin mutations. Hum Mutat 28(1), 27–32, 2007. Published 2006 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/humu.20436
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13</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Mutation</title><title level="j" type="abbrev">Hum. Mutat.</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-01">2007-01</date><biblScope unit="volume">28</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="27">27</biblScope><biblScope unit="page" to="32">32</biblScope></imprint><idno type="ISSN">1059-7794</idno></series><idno type="istex">F1D81CF5C458E9991AEC60E23F038E436F2229BB</idno><idno type="DOI">10.1002/humu.20436</idno><idno type="ArticleID">HUMU20436</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Child</term><term>DNA Mutational Analysis</term><term>EOPD, early‐onset parkinsonism</term><term>Female</term><term>Gene Deletion</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Parkinson disease</term><term>Parkinsonian Disorders (epidemiology)</term><term>Parkinsonian Disorders (genetics)</term><term>Pedigree</term><term>Promoter Regions, Genetic</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>parkin coregulated gene, PACRG</term><term>parkin, PARK2</term><term>promoter</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Child</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Deletion</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Promoter Regions, Genetic</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal recessive mutations in the parkin gene (PARK2) have been identified as a common cause of familial and also sporadic, early‐onset parkinsonism (EOPD): point mutations, exonic deletions, and duplications or triplications have been described. Here we report a novel mutation, consisting of a deletion of the promoter and exon 1 of parkin (c.1–?_7+?del), in a family compatible with autosomal recessive EOPD and an isolated case. The former was compound heterozygous for the parkin c.1–?_7+?del mutation and an exon 3 deletion (c.172–?_412+?del). The latter was homozygous for the parkin c.1–?_7+?del mutation. The promoter region is shared by parkin and the neighboring parkin coregulated gene (PACRG), which are oriented head‐to‐head and are transcribed on opposite DNA strands. There were no parkin transcripts in lymphoblasts from the patients carrying the parkin c.1–?_7+?del mutation. The phenotypes of patients with promoter deletions and consequently absence of parkin and possibly PACRG expression, were similar to and no more severe than those of other EOPD patients with parkin mutations. Hum Mutat 28(1), 27–32, 2007. Published 2006 Wiley‐Liss, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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