Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

被引：0
|
作者：
Francesca Antonacci
Megan Y Dennis
John Huddleston
Peter H Sudmant
Karyn Meltz Steinberg
Jill A Rosenfeld
Mattia Miroballo
Tina A Graves
Laura Vives
Maika Malig
Laura Denman
Archana Raja
Andrew Stuart
Joyce Tang
Brenton Munson
Lisa G Shaffer
Chris T Amemiya
Richard K Wilson
Evan E Eichler
机构：
[1] Università degli Studi di Bari Aldo Moro,Dipartimento di Biologia
[2] University of Washington,Department of Genome Sciences
[3] Howard Hughes Medical Institute,undefined
[4] University of Washington,undefined
[5] Genome Institute at Washington University,undefined
[6] Washington University School of Medicine,undefined
[7] Signature Genomic Laboratories,undefined
[8] LLC,undefined
[9] Benaroya Research Institute at Virginia Mason,undefined
[10] Genetic Veterinary Sciences,undefined
[11] Inc.,undefined
[12] Paw Print Genetics,undefined
来源：
Nature Genetics | 2014年 / 46卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Evan Eichler and colleagues present a detailed characterization of the chromosome 15q13.3 microdeletion region. They identify complex structural polymorphisms and find that the rearrangement breakpoints cluster in palindromic GOLGA8 core duplicons, providing evidence that this repeat and its palindromic architecture underlie the evolutionary and disease-related instability of this region.
引用
收藏
页码：1293 / 1302
页数：9
相关论文
共 9 条
  • [1] Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
    Antonacci, Francesca
    Dennis, Megan Y.
    Huddleston, John
    Sudmant, Peter H.
    Steinberg, Karyn Meltz
    Rosenfeld, Jill A.
    Miroballo, Mattia
    Graves, Tina A.
    Vives, Laura
    Malig, Maika
    Denman, Laura
    Raja, Archana
    Stuart, Andrew
    Tang, Joyce
    Munson, Brenton
    Shaffer, Lisa G.
    Amemiya, Chris T.
    Wilson, Richard K.
    Eichler, Evan E.
    NATURE GENETICS, 2014, 46 (12) : 1293 - 1302
  • [2] Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus
    Maggiolini, Flavia A. M.
    Cantsilieris, Stuart
    D'addabbo, Pietro
    Manganelli, Michele
    Coe, Bradley P.
    Dumont, Beth L.
    Sanders, Ashley D.
    Pang, Andy Wing Chun
    Vollger, Mitchell R.
    Palumbo, Orazio
    Palumbo, Pietro
    Accadia, Maria
    Carella, Massimo
    Eichler, Evan E.
    Antonacci, Francesca
    MOLECULAR CYTOGENETICS, 2019, 12
  • [3] Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus
    Maggiolini, Flavia A. M.
    Cantsilieris, Stuart
    D'Addabbo, Pietro
    Manganelli, Michele
    Coe, Bradley P.
    Dumont, Beth L.
    Sanders, Ashley D.
    Pang, Andy Wing Chun
    Vollger, Mitchell R.
    Palumbo, Orazio
    Palumbo, Pietro
    Accadia, Maria
    Carella, Massimo
    Eichler, Evan E.
    Antonacci, Francesca
    PLOS GENETICS, 2019, 15 (03):
  • [4] Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features of Autism Spectrum Disorder
    Kogan, Jeffrey
    Gross, Adam
    Shin, Rick
    Chen, Qian
    Walton, Noah
    Heusner, Carrie
    Lin, Amy
    Miyoshi, Sosuke
    Nishimura, Shintaro
    Miyake, Shinichi
    Tajinda, Katsunori
    Tamura, Kouichi
    Matsumoto, Mickey
    NEUROPSYCHOPHARMACOLOGY, 2013, 38 : S281 - S281
  • [5] Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder
    Kogan, Jeffrey H.
    Gross, Adam K.
    Featherstone, Robert E.
    Shin, Rick
    Chen, Qian
    Heusner, Carrie L.
    Adachi, Megumi
    Lin, Amy
    Walton, Noah M.
    Miyoshi, Sosuke
    Miyake, Shinichi
    Tajinda, Katsunori
    Ito, Hiroyuki
    Siegel, Steven J.
    Matsumoto, Mitsuyuki
    JOURNAL OF NEUROSCIENCE, 2015, 35 (49): : 16282 - 16294
  • [6] A CASE OF ABSENCE EPILEPSY WITH SEVERE INTELLECTUAL DISABILITY: DELINEATION OF THE CORE PHENOTYPE OF THE 15Q13.3 MICRODELETION SYNDROME
    Muhle, H.
    Mefford, H.
    Steinich, I.
    Ostertag, P.
    Eichler, E.
    Stephani, U.
    Sander, T.
    Helbig, I.
    EPILEPSIA, 2009, 50 : 38 - 38
  • [7] Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay
    Prasun, Pankaj
    Hankerd, Michael
    Kristofice, Melissa
    Scussel, Lindsey
    Sivaswamy, Lalitha
    Ebrahim, Salah
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (07) : 1815 - 1820
  • [8] Pharmacotherapeutic Implications of the Association Between Genomic Instability at Chromosome 15q13.3 and Autism Spectrum Disorders
    Deutsch, Stephen I.
    Urbano, Maria R.
    Burket, Jessica A.
    Herndon, Amy L.
    Winebarger, Erin E.
    CLINICAL NEUROPHARMACOLOGY, 2011, 34 (06) : 203 - 205
  • [9] Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region
    Mohajeri, Kiana
    Cantsilieris, Stuart
    Huddleston, John
    Nelson, Bradley J.
    Coe, Bradley P.
    Campbell, Catarina D.
    Baker, Carl
    Harshman, Lana
    Munson, Katherine M.
    Kronenberg, Zev N.
    Kremitzki, Milinn
    Raja, Archana
    Catacchio, Claudia Rita
    Graves, Tina A.
    Wilson, Richard K.
    Ventura, Mario
    Eichler, Evan E.
    GENOME RESEARCH, 2016, 26 (11) : 1453 - 1467
1