Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.
Identifieur interne : 000666 ( Ncbi/Checkpoint ); précédent : 000665; suivant : 000667Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.
Auteurs : Suzanne Lesage [France] ; Periquet Magali ; Ebba Lohmann ; Lucette Lacomblez ; Helio Teive ; Sabine Janin ; Pierre-Yves Cousin ; Alexandra Dürr ; Alexis BriceSource :
- Human mutation [ 1098-1004 ] ; 2007.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Child, DNA Mutational Analysis, Female, Gene Deletion, Humans, Male, Middle Aged, Molecular Chaperones (genetics), Parkinsonian Disorders (epidemiology), Parkinsonian Disorders (genetics), Pedigree, Promoter Regions, Genetic, Ubiquitin-Protein Ligases (genetics).
- 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.
DOI: 10.1002/humu.20436
PubMed: 17068781
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000E14
- to stream PubMed, to step Curation: 000D74
- to stream PubMed, to step Checkpoint: 000D74
- to stream Ncbi, to step Merge: 000666
- to stream Ncbi, to step Curation: 000666
Links to Exploration step
pubmed:17068781Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.</title><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Centre Hospitalier Universitaire (CHU) Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U679, Neurology and Experimental Therapeutics, Centre Hospitalier Universitaire (CHU) Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Magali, Periquet" sort="Magali, Periquet" uniqKey="Magali P" first="Periquet" last="Magali">Periquet Magali</name></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name></author><author><name sortKey="Lacomblez, Lucette" sort="Lacomblez, Lucette" uniqKey="Lacomblez L" first="Lucette" last="Lacomblez">Lucette Lacomblez</name></author><author><name sortKey="Teive, Helio" sort="Teive, Helio" uniqKey="Teive H" first="Helio" last="Teive">Helio Teive</name></author><author><name sortKey="Janin, Sabine" sort="Janin, Sabine" uniqKey="Janin S" first="Sabine" last="Janin">Sabine Janin</name></author><author><name sortKey="Cousin, Pierre Yves" sort="Cousin, Pierre Yves" uniqKey="Cousin P" first="Pierre-Yves" last="Cousin">Pierre-Yves Cousin</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="RBID">pubmed:17068781</idno><idno type="pmid">17068781</idno><idno type="doi">10.1002/humu.20436</idno><idno type="wicri:Area/PubMed/Corpus">000E14</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000E14</idno><idno type="wicri:Area/PubMed/Curation">000D74</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000D74</idno><idno type="wicri:Area/PubMed/Checkpoint">000D74</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000D74</idno><idno type="wicri:Area/Ncbi/Merge">000666</idno><idno type="wicri:Area/Ncbi/Curation">000666</idno><idno type="wicri:Area/Ncbi/Checkpoint">000666</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.</title><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Centre Hospitalier Universitaire (CHU) Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U679, Neurology and Experimental Therapeutics, Centre Hospitalier Universitaire (CHU) Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Magali, Periquet" sort="Magali, Periquet" uniqKey="Magali P" first="Periquet" last="Magali">Periquet Magali</name></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name></author><author><name sortKey="Lacomblez, Lucette" sort="Lacomblez, Lucette" uniqKey="Lacomblez L" first="Lucette" last="Lacomblez">Lucette Lacomblez</name></author><author><name sortKey="Teive, Helio" sort="Teive, Helio" uniqKey="Teive H" first="Helio" last="Teive">Helio Teive</name></author><author><name sortKey="Janin, Sabine" sort="Janin, Sabine" uniqKey="Janin S" first="Sabine" last="Janin">Sabine Janin</name></author><author><name sortKey="Cousin, Pierre Yves" sort="Cousin, Pierre Yves" uniqKey="Cousin P" first="Pierre-Yves" last="Cousin">Pierre-Yves Cousin</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></analytic><series><title level="j">Human mutation</title><idno type="eISSN">1098-1004</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></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>Female</term><term>Gene Deletion</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</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></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></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.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement></list><tree><noCountry><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Cousin, Pierre Yves" sort="Cousin, Pierre Yves" uniqKey="Cousin P" first="Pierre-Yves" last="Cousin">Pierre-Yves Cousin</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Janin, Sabine" sort="Janin, Sabine" uniqKey="Janin S" first="Sabine" last="Janin">Sabine Janin</name><name sortKey="Lacomblez, Lucette" sort="Lacomblez, Lucette" uniqKey="Lacomblez L" first="Lucette" last="Lacomblez">Lucette Lacomblez</name><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><name sortKey="Magali, Periquet" sort="Magali, Periquet" uniqKey="Magali P" first="Periquet" last="Magali">Periquet Magali</name><name sortKey="Teive, Helio" sort="Teive, Helio" uniqKey="Teive H" first="Helio" last="Teive">Helio Teive</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonFranceV1/Data/Ncbi/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000666 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 000666 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonFranceV1
|flux= Ncbi
|étape= Checkpoint
|type= RBID
|clé= pubmed:17068781
|texte= Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i -Sk "pubmed:17068781" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a ParkinsonFranceV1
| This area was generated with Dilib version V0.6.29. |  |