نتایج جستجو برای: large genomic rearrangements

تعداد نتایج: 1142013  

2014
Berivan Baskin Dimitri J Stavropoulos Paige A Rebeiro Jennifer Orr Martin Li Leslie Steele Christian R Marshall Edmond G Lemire Kym M Boycott William Gibson Peter N Ray

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 fi...

Journal: :Human molecular genetics 2003
Lluis Armengol Miguel Angel Pujana Joseph Cheung Stephen W Scherer Xavier Estivill

The sequence of the mouse genome allows one to compare the conservation of synteny between the human and mouse genome and exploration of regions that might have been involved in major rearrangements during the evolution of these two species (evolutionary genome rearrangements). Recent segmental duplications (or duplicons) are paralogous DNA sequences with high sequence identity that account for...

Journal: :Current Opinion in Genetics & Development 2012

Journal: :Human molecular genetics 2011
George Koumbaris Hariklia Hatzisevastou-Loukidou Angelos Alexandrou Marios Ioannides Christodoulos Christodoulou Tomas Fitzgerald Diana Rajan Stephen Clayton Sophia Kitsiou-Tzeli Joris R Vermeesch Nicos Skordis Pavlos Antoniou Ants Kurg Ioannis Georgiou Nigel P Carter Philippos C Patsalis

The recently described DNA replication-based mechanisms of fork stalling and template switching (FoSTeS) and microhomology-mediated break-induced replication (MMBIR) were previously shown to catalyze complex exonic, genic and genomic rearrangements. By analyzing a large number of isochromosomes of the long arm of chromosome X (i(Xq)), using whole-genome tiling path array comparative genomic hyb...

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