Sökning: onr:"swepub:oai:DiVA.org:uu-232262" >
Complex genomic rea...
Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms
-
- Baskin, Berivan (författare)
- Uppsala universitet,Medicinsk genetik
-
Stavropoulos, Dimitri J. (författare)
-
Rebeiro, Paige A. (författare)
-
visa fler...
-
Orr, Jennifer (författare)
-
Li, Martin (författare)
-
Steele, Leslie (författare)
-
Marshall, Christian R. (författare)
-
Lemire, Edmond G. (författare)
-
Boycott, Kym M. (författare)
-
Gibson, William (författare)
-
Ray, Peter N. (författare)
-
visa färre...
-
(creator_code:org_t)
- 2014-09-15
- 2014
- Engelska.
-
Ingår i: Molecular Genetics & Genomic Medicine. - : Wiley-Blackwell. - 2324-9269. ; 2:6, s. 539-547
- Relaterad länk:
-
https://doi.org/10.1...
-
visa fler...
-
https://uu.diva-port... (primary) (Raw object)
-
https://onlinelibrar...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- Genomic rearrangements such as intragenic deletions and duplications are the most prevalent type of mutations in the dystrophin gene resulting in Duchenne and Becker muscular dystrophy (D/BMD). These copy number variations (CNVs) are nonrecurrent and can result from either nonhomologous end joining (NHEJ) or microhomology-mediated replication-dependent recombination (MMRDR). We characterized five DMD patients with complex genomic rearrangements using a combination of MLPA/mRNA transcript analysis/custom array comparative hybridization arrays (CGH) and breakpoint sequence analysis to investigate the mechanisms for these rearrangements. Two patients had complex rearrangements that involved microhomologies at breakpoints. One patient had a noncontiguous insertion of 89.7 kb chromosome 4 into intron 43 of DMD involving three breakpoints with 2–5 bp microhomology at the junctions. A second patient had an inversion of exon 44 flanked by intronic deletions with two breakpoint junctions each showing 2 bp microhomology. The third patient was a female with an inherited deletion of exon 47 in DMD on the maternal allele and a de novo noncontiguous duplication of exons 45–49 in DMD and MID1 on the paternal allele. The other two patients harbored complex noncontiguous duplications within the dystrophin gene. We propose a replication-based mechanisms for all five complex DMD rearrangements. This study identifies additional underlying mechanisms in DMD, and provides insight into the molecular bases of these genomic rearrangements.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Duchenne muscular dystrophy
- dystrophin
- MMRDR
- mRNA
- rearrangement
- replication
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
-
Baskin, Berivan
-
Stavropoulos, Di ...
-
Rebeiro, Paige A ...
-
Orr, Jennifer
-
Li, Martin
-
Steele, Leslie
-
visa fler...
-
Marshall, Christ ...
-
Lemire, Edmond G ...
-
Boycott, Kym M.
-
Gibson, William
-
Ray, Peter N.
-
visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Medicinska och f ...
-
och Medicinsk geneti ...
- Artiklar i publikationen
-
Molecular Geneti ...
- Av lärosätet
-
Uppsala universitet