نتایج جستجو برای: segmental duplications

تعداد نتایج: 25176  

Journal: :Genetics 1997
D D Perkins B S Margolin E U Selker S D Haedo

Previous studies of repeat induced point mutation (RIP) have typically involved gene-size duplications resulting from insertion of transforming DNA at ectopic chromosomal positions. To ascertain whether genes in larger duplications are subject to RIP, progeny were examined from crosses heterozygous for long segmental duplications obtained using insertional or quasiterminal translocations. Of 17...

Journal: :Human molecular genetics 2009
M Katharine Rudd Julia Keene Brian Bunke Erin B Kaminsky Margaret P Adam Jennifer G Mulle David H Ledbetter Christa L Martin

Copy number studies have led to an explosion in the discovery of new segmental duplication-mediated deletions and duplications. We have analyzed copy number changes in 2419 patients referred for clinical array comparative genomic hybridization studies. Twenty-three percent of the abnormal copy number changes we found are immediately flanked by segmental duplications > or =10 kb in size and > or...

2014
Jeremy D. DeBarry Jessica C. Kissinger

We characterize the prevalence, distribution, divergence, and putative functions of detectable two-copy paralogs and segmental duplications in the Apicomplexa, a phylum of parasitic protists. Apicomplexans are mostly obligate intracellular parasites responsible for human and animal diseases (e.g. malaria and toxoplasmosis). Gene loss is a major force in the phylum. Genomes are small and protein...

2015
Waranya Natesuntorn Kotaro Iwami Yuki Matsubara Yu Sasano Minetaka Sugiyama Yoshinobu Kaneko Satoshi Harashima

Segmental aneuploidy can play an important role in environmental adaptation. However, study of segmental aneuploids is severely hampered by the difficulty of creating them in a designed fashion. Here, we describe a PCR-mediated chromosome duplication (PCDup) technology that enables the generation of segmental aneuploidy at any desired chromosomal region in Saccharomyces cerevisiae. We construct...

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