The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles-Reference-Cited by-同舟云学术

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

Published:2015-09-20 Issue:14 Volume:30 Page:1947-1953
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Kusenda Mary¹²³,Vacic Vladimir¹,Malhotra Dheeraj¹⁴,Rodgers Linda¹,Pavon Kevin¹,Meth Jennifer¹,Kumar Ravinesh A.⁵,Christian Susan L.⁵,Peeters Hilde⁶,Cho Shawn S.⁴,Addington Anjene⁷,Rapoport Judith L.⁷,Sebat Jonathan⁴

Affiliation:

1. Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA

2. Department of Biology, Chemistry and Environmental Studies, Molloy College, Rockville Centre, New York 11571, USA

3. Current affiliation

4. Beyster Center for Genomics of Psychiatric Diseases, Department of Psychiatry, and Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USA

5. Department of Human Genetics, University of Chicago, Chicago, IL, USA

6. Laboratory for Genetics of Human Development, Department of Human Genetics, Faculty of Medicine, Katholieke Universiteit Leuven, Leuven, Netherlands

7. Child Psychiatry Branch, National Institute of Mental Health, Bethesda, MD, USA

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.

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/0883073815602066

Reference35 articles.

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

2. Duplication hotspots, rare genomic disorders, and common disease

3. Recurrent 16p11.2 microdeletions in autism

4. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

5. Association between Microdeletion and Microduplication at 16p11.2 and Autism

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