نتایج جستجو برای: segmental duplications

تعداد نتایج: 25176  

Journal: :American journal of human genetics 2013
Maria Delio Tingwei Guo Donna M McDonald-McGinn Elaine Zackai Sean Herman Mark Kaminetzky Anne Marie Higgins Karlene Coleman Carolyn Chow Maria Jalbrzikowski Carrie E Bearden Alice Bailey Anders Vangkilde Line Olsen Charlotte Olesen Flemming Skovby Thomas M Werge Ludivine Templin Tiffany Busa Nicole Philip Ann Swillen Joris R Vermeesch Koen Devriendt Maude Schneider Sophie Dahoun Stephan Eliez Kelly Schoch Stephen R Hooper Vandana Shashi Joy Samanich Robert Marion Therese van Amelsvoort Erik Boot Petra Klaassen Sasja N Duijff Jacob Vorstman Tracy Yuen Candice Silversides Eva Chow Anne Bassett Amos Frisch Abraham Weizman Doron Gothelf Maria Niarchou Marianne van den Bree Michael J Owen Damian Heine Suñer Jordi Rosell Andreo Marco Armando Stefano Vicari Maria Cristina Digilio Adam Auton Wendy R Kates Tao Wang Robert J Shprintzen Beverly S Emanuel Bernice E Morrow

Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications. Although previous studies exist, each was of small size, and it remains to be determined whether ...

Journal: :Molecular phylogenetics and evolution 2010
Amir Ali Abbasi

BACKGROUND Vertebrate genomes contain extensive intra-genomic conserved synteny, which is the presence of similar set of genes on two or more chromosomes (paralogons). The existence of these paralogons has led to the proposal that vertebrate genome was structured by one or more rounds of ancient whole genome duplications (2R hypothesis). RESULTS The 2R hypothesis was tested by phylogenetic an...

Journal: :Journal of computational biology : a journal of computational molecular cell biology 2009
Yu Zhang Giltae Song Tomás Vinar Eric D. Green Adam C. Siepel Webb Miller

Clusters of genes that evolved from single progenitors via repeated segmental duplications present significant challenges to the generation of a truly complete human genome sequence. Such clusters can confound both accurate sequence assembly and downstream computational analysis, yet they represent a hotbed of functional innovation, making them of extreme interest. We have developed an algorith...

2003
Li-Ching Hsieh Liaofu Luo H. C. Lee

We show that textual analysis of microbial genomes reveal telling footprints of the early evolution of the genomes. The frequencies of word occurrence of random DNA sequences considered as texts in their four nucleotides are expected to obey Poisson distributions. It is noticed that for words less than nine letters the average width of the distributions for complete microbial genomes is many ti...

Journal: :Cell 2012
Cécile Charrier Kaumudi Joshi Jaeda Coutinho-Budd Ji-Eun Kim Nelle Lambert Jacqueline de Marchena Wei-Lin Jin Pierre Vanderhaeghen Anirvan Ghosh Takayuki Sassa Franck Polleux

Structural genomic variations represent a major driving force of evolution, and a burst of large segmental gene duplications occurred in the human lineage during its separation from nonhuman primates. SRGAP2, a gene recently implicated in neocortical development, has undergone two human-specific duplications. Here, we find that both duplications (SRGAP2B and SRGAP2C) are partial and encode a tr...

2013
Beth L. Dumont Evan E. Eichler

Standard methods of DNA sequence analysis assume that sequences evolve independently, yet this assumption may not be appropriate for segmental duplications that exchange variants via interlocus gene conversion (IGC). Here, we use high quality multiple sequence alignments from well-annotated segmental duplications to systematically identify IGC signals in the human reference genome. Our analysis...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید