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Defining the breakpoints of the quaking viable mouse mutation reveals a duplication from a Parkin intron
Author(s) -
Dapper Jason D.,
Justice Monica J.
Publication year - 2005
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20595
Subject(s) - biology , parkin , breakpoint , genetics , gene duplication , intron , mutation , mutant , gene , phenotype , chromosome , microbiology and biotechnology , parkinson's disease , medicine , disease , pathology
The quaking viable ( qk v ) 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 qk v 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. © 2005 Movement Disorder Society