Literature DB >> 26391891

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.

Mary Kusenda1, Vladimir Vacic2, Dheeraj Malhotra3, Linda Rodgers2, Kevin Pavon2, Jennifer Meth2, Ravinesh A Kumar4, Susan L Christian4, Hilde Peeters5, Shawn S Cho6, Anjene Addington7, Judith L Rapoport7, Jonathan Sebat8.   

Abstract

Copy number variants (CNVs) of a 600 kb region on 16p11.2 are associated with neurodevelopmental disorders and changes in brain volume. The authors hypothesize that abnormal brain development associated with this CNV can be attributed to changes in transcriptional regulation. The authors determined the effects of 16p11.2 dosage on gene expression by transcription profiling of lymphoblast cell lines derived from 6 microdeletion carriers, 15 microduplication carriers and 15 controls. Gene dosage had a significant influence on the transcript abundance of a majority (20/34) of genes within the CNV region. In addition, a limited number of genes were dysregulated in trans. Genes most strongly correlated with patient head circumference included SULT1A, KCTD13, and TMEM242. Given the modest effect of 16p11.2 copy number on global transcriptional regulation in lymphocytes, larger studies utilizing neuronal cell types may be needed in order to elucidate the signaling pathways that influence brain development in this genetic disorder.
© The Author(s) 2015.

Entities:  

Keywords:  16p11.2; autism spectrum disorders (ASD); copy number variation (CNV); gene expression; schizophrenia (SCZ)

Mesh：

Year:  2015        PMID： 26391891      PMCID： PMC4739844          DOI： 10.1177/0883073815602066

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


  35 in total

1.  Lymphoblast and brain expression of AHI1 and the novel primate-specific gene, C6orf217, in schizophrenia and bipolar disorder.

Authors:  Alexandra Slonimsky; Itzchak Levy; Yoav Kohn; Amihai Rigbi; Edna Ben-Asher; Doron Lancet; Galila Agam; Bernard Lerer
Journal:  Schizophr Res       Date:  2010-05-08       Impact factor: 4.939

2.  Preliminary investigation of gene expression profiles in peripheral blood lymphocytes in schizophrenia.

Authors:  Nikola A Bowden; Judith Weidenhofer; Rodney J Scott; Ulrich Schall; Juanita Todd; Patricia T Michie; Paul A Tooney
Journal:  Schizophr Res       Date:  2006-01-18       Impact factor: 4.939

3.  Diagnostic genome profiling in mental retardation.

Authors:  Bert B A de Vries; Rolph Pfundt; Martijn Leisink; David A Koolen; Lisenka E L M Vissers; Irene M Janssen; Simon van Reijmersdal; Willy M Nillesen; Erik H L P G Huys; Nicole de Leeuw; Dominique Smeets; Erik A Sistermans; Ton Feuth; Conny M A van Ravenswaaij-Arts; Ad Geurts van Kessel; Eric F P M Schoenmakers; Han G Brunner; Joris A Veltman
Journal:  Am J Hum Genet       Date:  2005-08-30       Impact factor: 11.025

4.  A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae.

Authors:  Keiko Shimojima; Takehiko Inoue; Yuji Fujii; Kousaku Ohno; Toshiyuki Yamamoto
Journal:  Eur J Med Genet       Date:  2009-09-19       Impact factor: 2.708

5.  Strong association of de novo copy number mutations with autism.

Authors:  Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler
Journal:  Science       Date:  2007-03-15       Impact factor: 47.728

6.  Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.

Authors:  Yuhei Nishimura; Christa L Martin; Araceli Vazquez-Lopez; Sarah J Spence; Ana Isabel Alvarez-Retuerto; Marian Sigman; Corinna Steindler; Sandra Pellegrini; N Carolyn Schanen; Stephen T Warren; Daniel H Geschwind
Journal:  Hum Mol Genet       Date:  2007-05-21       Impact factor: 6.150

7.  Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Authors:  Marwan Shinawi; Pengfei Liu; Sung-Hae L Kang; Joseph Shen; John W Belmont; Daryl A Scott; Frank J Probst; William J Craigen; Brett H Graham; Amber Pursley; Gary Clark; Jennifer Lee; Monica Proud; Amber Stocco; Diana L Rodriguez; Beth A Kozel; Steven Sparagana; Elizabeth R Roeder; Susan G McGrew; Thaddeus W Kurczynski; Leslie J Allison; Stephen Amato; Sarah Savage; Ankita Patel; Pawel Stankiewicz; Arthur L Beaudet; Sau Wai Cheung; James R Lupski
Journal:  J Med Genet       Date:  2009-11-12       Impact factor: 6.318

8.  KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

Authors:  Christelle Golzio; Jason Willer; Michael E Talkowski; Edwin C Oh; Yu Taniguchi; Sébastien Jacquemont; Alexandre Reymond; Mei Sun; Akira Sawa; James F Gusella; Atsushi Kamiya; Jacques S Beckmann; Nicholas Katsanis
Journal:  Nature       Date:  2012-05-16       Impact factor: 49.962

9.  Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes.

Authors:  Valerie W Hu; Bryan C Frank; Shannon Heine; Norman H Lee; John Quackenbush
Journal:  BMC Genomics       Date:  2006-05-18       Impact factor: 3.969

10.  Microduplications of 16p11.2 are associated with schizophrenia.

Authors:  Shane E McCarthy; Vladimir Makarov; George Kirov; Anjene M Addington; Jon McClellan; Seungtai Yoon; Diana O Perkins; Diane E Dickel; Mary Kusenda; Olga Krastoshevsky; Verena Krause; Ravinesh A Kumar; Detelina Grozeva; Dheeraj Malhotra; Tom Walsh; Elaine H Zackai; Paige Kaplan; Jaya Ganesh; Ian D Krantz; Nancy B Spinner; Patricia Roccanova; Abhishek Bhandari; Kevin Pavon; B Lakshmi; Anthony Leotta; Jude Kendall; Yoon-Ha Lee; Vladimir Vacic; Sydney Gary; Lilia M Iakoucheva; Timothy J Crow; Susan L Christian; Jeffrey A Lieberman; T Scott Stroup; Terho Lehtimäki; Kaija Puura; Chad Haldeman-Englert; Justin Pearl; Meredith Goodell; Virginia L Willour; Pamela Derosse; Jo Steele; Layla Kassem; Jessica Wolff; Nisha Chitkara; Francis J McMahon; Anil K Malhotra; James B Potash; Thomas G Schulze; Markus M Nöthen; Sven Cichon; Marcella Rietschel; Ellen Leibenluft; Vlad Kustanovich; Clara M Lajonchere; James S Sutcliffe; David Skuse; Michael Gill; Louise Gallagher; Nancy R Mendell; Nick Craddock; Michael J Owen; Michael C O'Donovan; Tamim H Shaikh; Ezra Susser; Lynn E Delisi; Patrick F Sullivan; Curtis K Deutsch; Judith Rapoport; Deborah L Levy; Mary-Claire King; Jonathan Sebat
Journal:  Nat Genet       Date:  2009-10-25       Impact factor: 38.330
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  1 in total

1.  Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers.

Authors:  Hua Xie; Fang Liu; Yu Zhang; Qian Chen; Shaofang Shangguan; Zhijie Gao; Nan Wu; Jian Wang; Xiaodai Cui; Lin Wang; Xiaoli Chen
Journal:  Mol Genet Genomic Med       Date:  2020-09-01       Impact factor: 2.183
  1 in total

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