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Defining the breakpoints of the Quakingviable mouse mutation reveals a duplication from a Parkin intron

Identifieur interne : 000F99 ( PascalFrancis/Curation ); précédent : 000F98; suivant : 001000

Defining the breakpoints of the Quakingviable mouse mutation reveals a duplication from a Parkin intron

Auteurs : Jason D. Dapper [États-Unis] ; Monica J. Justice [États-Unis]

Source :

RBID : Pascal:06-0002711

Descripteurs français

English descriptors

Abstract

The quakingviable (qkv) mutant mouse shows a recessive neurological phenotype that includes central nervous system (CNS) dysmyelination, seizures, and tremor associated with voluntary movement. The molecular defect of qkv has been previously reported to be a spontaneous ∼1 megabase (Mb) deletion in the proximal region of mouse chromosome 17 that occurred in the DBA mouse strain more than four decades ago. The mutation has recently been shown to affect three genes in the region: Quaking (qk), Parkin-coregulated gene (Pacrg), and Parkin. Here we determine the exact deletion breakpoints and demonstrate that the mutation is not just comprised of a ∼1.1 Mb deletion, but also harbors a small 163 bp duplication fragment between the deletion breakpoints. Although the distal deletion breakpoint is within the fifth intron of the mouse Parkin gene, the duplicated sequence is derived from the sixth Parkin intron and shows positive transcriptional activity on a reporter gene in vitro. This complexity provides insight into a well-studied neurological mutant and may have a role in affecting the phenotype observed.
pA  
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A05       @2 20
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A08 01  1  ENG  @1 Defining the breakpoints of the Quakingviable mouse mutation reveals a duplication from a Parkin intron
A11 01  1    @1 DAPPER (Jason D.)
A11 02  1    @1 JUSTICE (Monica J.)
A14 01      @1 Department of Molecular and Human Genetics, Baylor College of Medicine @2 Houston, Texas @3 USA @Z 1 aut. @Z 2 aut.
A20       @1 1369-1374
A21       @1 2005
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C01 01    ENG  @0 The quakingviable (qkv) mutant mouse shows a recessive neurological phenotype that includes central nervous system (CNS) dysmyelination, seizures, and tremor associated with voluntary movement. The molecular defect of qkv has been previously reported to be a spontaneous ∼1 megabase (Mb) deletion in the proximal region of mouse chromosome 17 that occurred in the DBA mouse strain more than four decades ago. The mutation has recently been shown to affect three genes in the region: Quaking (qk), Parkin-coregulated gene (Pacrg), and Parkin. Here we determine the exact deletion breakpoints and demonstrate that the mutation is not just comprised of a ∼1.1 Mb deletion, but also harbors a small 163 bp duplication fragment between the deletion breakpoints. Although the distal deletion breakpoint is within the fifth intron of the mouse Parkin gene, the duplicated sequence is derived from the sixth Parkin intron and shows positive transcriptional activity on a reporter gene in vitro. This complexity provides insight into a well-studied neurological mutant and may have a role in affecting the phenotype observed.
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C03 01  X  FRE  @0 Système nerveux pathologie @5 01
C03 01  X  ENG  @0 Nervous system diseases @5 01
C03 01  X  SPA  @0 Sistema nervioso patología @5 01
C03 02  X  FRE  @0 Délétion @5 02
C03 02  X  ENG  @0 Deletion @5 02
C03 02  X  SPA  @0 Deleción @5 02
C03 03  X  FRE  @0 Animal @5 09
C03 03  X  ENG  @0 Animal @5 09
C03 03  X  SPA  @0 Animal @5 09
C03 04  X  FRE  @0 Souris @5 10
C03 04  X  ENG  @0 Mouse @5 10
C03 04  X  SPA  @0 Ratón @5 10
C03 05  X  FRE  @0 Mutation @5 11
C03 05  X  ENG  @0 Mutation @5 11
C03 05  X  SPA  @0 Mutación @5 11
C03 06  X  FRE  @0 Duplication @5 12
C03 06  X  ENG  @0 Duplication @5 12
C03 06  X  SPA  @0 Duplicación @5 12
C03 07  X  FRE  @0 Parkine @5 13
C03 07  X  ENG  @0 Parkin @5 13
C03 07  X  SPA  @0 Parkin @5 13
C03 08  X  FRE  @0 Intron @5 14
C03 08  X  ENG  @0 Intron @5 14
C03 08  X  SPA  @0 Intrón @5 14
C07 01  X  FRE  @0 Rodentia @2 NS
C07 01  X  ENG  @0 Rodentia @2 NS
C07 01  X  SPA  @0 Rodentia @2 NS
C07 02  X  FRE  @0 Mammalia @2 NS
C07 02  X  ENG  @0 Mammalia @2 NS
C07 02  X  SPA  @0 Mammalia @2 NS
C07 03  X  FRE  @0 Vertebrata @2 NS
C07 03  X  ENG  @0 Vertebrata @2 NS
C07 03  X  SPA  @0 Vertebrata @2 NS
N21       @1 002
N44 01      @1 OTO
N82       @1 OTO

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Pascal:06-0002711

Le document en format XML

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