Browsing by Author "Ventura, Mario"

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  • A burst of segmental duplications in the genome of the African great ape ancestor
    Marquès i Bonet, Tomàs, 1975-; Kidd, Jeffrey M.; Ventura, Mario; Graves, Tina A.; Cheng, Ze; Hillier, LeDeana W.; Jiang, Zhaoshi; Baker, Carl; Malfavon-Borja, Ray; Fulton, Lucinda; Alkan, Can; Aksay, Gozde; Girirajan, Santhosh; Siswara, Priscillia; Chen, Lin; Cardone, Maria Francesca; Navarro i Cuartiellas, Arcadi, 1969-; Mardis, Elaine R.; Wilson, Richard K.; Eichler, Evan E. (Nature Publishing Group, 2009)
    It is generally accepted that the extent of phenotypic change between human and great apes is dissonant with the rate of molecular change. Between these two groups, proteins are virtually identical, cytogenetically there ...
  • Death and resurrection of the human IRGM gene
    Bekpen, Cemalettin; Marquès i Bonet, Tomàs, 1975-; Alkan, Can; Antonacci, Francesca; Leogrande, Maria Bruna; Ventura, Mario; Kidd, Jeffrey M.; Siswara, Priscillia; Howard, Jonathan C.; Eichler, Evan E. (Public Library of Science (PLoS), 2009)
    Immunity-related GTPases (IRG) play an important role in defense against intracellular pathogens. One member of this gene family in humans, IRGM, has been recently implicated as a risk factor for Crohn's disease. We analyzed ...
  • Evolution and diversity of copy number variation in the great ape lineage
    Sudmant, Peter H.; Huddleston, John; Catacchio, Claudia R.; Malig, Maika; Hillier, LeDeana W.; Baker, Carl; Mohajeri, Kiana; Kondova, Ivanela; Bontrop, Ronald E.; Persengiev, Stephan; Antonacci, Francesca; Ventura, Mario; Prado Martínez, Javier, 1987-; Marquès i Bonet, Tomàs, 1975-; Eichler, Evan E.; Project Great Ape Genome (Cold Spring Harbor Laboratory Press (CSHL Press), 2013)
    Copy number variation (CNV) contributes to disease and has restructured the genomes of great apes. The diversity and rate of this process, however, have not been extensively explored among great ape lineages. We analyzed ...
  • Evolutionary dynamism of the primate LRRC37 gene family
    Giannuzzi, Giuliana; Siswara, Priscillia; Malig, Maika; Marquès i Bonet, Tomàs, 1975-; Mullikin, James C.; Ventura, Mario; Eichler, Evan E.; NISC Comparative Sequencing Program (Cold Spring Harbor Laboratory Press (CSHL Press), 2013)
    Core duplicons in the human genome represent ancestral duplication modules shared by the majority of intrachromosomal duplication blocks within a given chromosome. These cores are associated with the emergence of novel ...
  • Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee
    Ventura, Mario; Catacchio, Claudia R.; Alkan, Can; Marquès i Bonet, Tomàs, 1975-; Saijadian, Saba; Graves, Tina A.; Hormozdiari, Fereydoun; Navarro i Cuartiellas, Arcadi, 1969-; Malig, Maika; Baker, Carl; Lee, Choli; Turner, Emily H.; Chen, Lin; Kidd, Jeffrey M.; Archidiacono, Nicoletta; Shendure, Jay; Wilson, Richard K.; Eichler, Evan E. (Cold Spring Harbor Laboratory Press-CSHL Press, 2011)
    Structural variation has played an important role in the evolutionary restructuring of human and great ape genomes. Recent analyses have suggested that the genomes of chimpanzee and human have been particularly enriched ...
  • Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites
    Girirajan, Santhosh; Chen, Lin; Graves, Tina A.; Marquès i Bonet, Tomàs, 1975-; Ventura, Mario; Fronick, Catrina; Fulton, Lucinda; Rocchi, Mariano; Fulton, Robert S.; Wilson, Richard K.; Mardis, Elaine R.; Eichler, Evan E. (Cold Spring Harbor Laboratory Press-CSHL Press, 2009)
    The gibbon genome exhibits extensive karyotypic diversity with an increased rate of chromosomal rearrangements during evolution. In an effort to understand the mechanistic origin and implications of these rearrangement ...
  • The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
    Ventura, Mario; Catacchio, Claudia R.; Saijadian, Saba; Vives, Laura; Sudmant, Peter H.; Marquès i Bonet, Tomàs, 1975-; Graves, Tina A.; Wilson, Richard K.; Eichler, Evan E. (Cold Spring Harbor Laboratory Press (CSHL Press), 2012)
    Chimpanzee and gorilla chromosomes differ from human chromosomes by the presence of large blocks of subterminal heterochromatin thought to be composed primarily of arrays of tandem satellite sequence. We explore their ...