Sequence analysis of 17 NRXN1 deletions

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics
Louise Kristine Enggaard HoeffdingThomas Werge

Abstract

Genome instability plays fundamental roles in human evolution and phenotypic variation within our population. This instability leads to genomic rearrangements that are involved in a wide variety of human disorders, including congenital and neurodevelopmental disorders, and cancers. Insight into the molecular mechanisms governing such genomic rearrangements may increase our understanding of disease pathology and evolutionary processes. Here we analyse 17 carriers of non-recurrent deletions in the NRXN1 gene, which have been associated with neurodevelopmental disorders, e.g. schizophrenia, autism and epilepsies. 17 non-recurrent NRXN1 deletions identified by GWA were sequenced to map the breakpoints of each. Meme … etc. was used to identify shared patterns between the deletions and compare these were previously studies on non-recurrent deletions. We discovered two novel sequence motifs shared between all 17 NRXN1 deletions and a significantly higher AT nucleotide content at the breakpoints, compared to the overall nucleotide content on chromosome 2. We found different alteration of sequence at the breakpoint; small insertions and duplications giving rise to short microhomology sequences. No single mechanism seems to be implicated...Continue Reading

References

Aug 15, 1995·Proceedings of the National Academy of Sciences of the United States of America·M KarayiorgouV K Lasseter
Jan 31, 2002·Trends in Genetics : TIG·Paweł Stankiewicz, James R Lupski
Jun 20, 2002·Human Genetics·Carlo NobileGian Antonio Danieli
Feb 7, 2004·Human Molecular Genetics·Christine J Shaw, James R Lupski
Nov 5, 2004·Human Genetics·Christine J Shaw, James R Lupski
Jun 16, 2006·Human Molecular Genetics·Jennifer A LeeJames R Lupski
Nov 9, 2007·Human Molecular Genetics·George KirovReinhard Ullmann
Nov 15, 2007·The Journal of Biological Chemistry·Michael R Lieber
Feb 7, 2008·American Journal of Human Genetics·Christian R MarshallStephen W Scherer
Apr 19, 2008·Nature·David A WheelerJonathan M Rothberg
Aug 1, 2008·Nature·UNKNOWN International Schizophrenia Consortium
Aug 1, 2008·Nature·Hreinn StefanssonKari Stefansson
Sep 24, 2008·Trends in Genetics : TIG·Mitch McVey, Sang Eun Lee
Oct 24, 2008·Human Molecular Genetics·Dan RujescuDavid A Collier
May 1, 2009·Nature·Joseph T GlessnerHakon Hakonarson
May 22, 2009·Nucleic Acids Research·Timothy L BaileyWilliam S Noble
Sep 4, 2009·Cellular and Molecular Life Sciences : CMLS·Junhua ZhaoKaren M Vasquez
Sep 30, 2009·Molecular Psychiatry·A IngasonD M St Clair
Oct 27, 2009·Nature Genetics·Shane E McCarthyJonathan Sebat
Feb 18, 2010·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Barbara Wiśniowiecka-KowalnikPaweł Stankiewicz
Apr 7, 2010·Nature Genetics·Donald F ConradMatthew E Hurles
Jun 15, 2010·Seminars in Cancer Biology·Jian-Min ChenGeorge P Patrinos
Aug 10, 2010·American Journal of Human Genetics·Jennifer Gladys MulleStephen T Warren
Oct 29, 2010·Nature·Gonçalo R AbecasisGil A McVean
Feb 5, 2011·Nature·Ryan E MillsUNKNOWN 1000 Genomes Project
Feb 18, 2011·The American Journal of Psychiatry·Andrés IngasonThomas Werge
Aug 14, 2012·The American Journal of Psychiatry·Douglas F LevinsonPeter A Holmans
Jan 9, 2013·Epilepsia·Rikke S MøllerUNKNOWN EPICURE Consortium

❮ Previous
Next ❯

Citations

Jul 21, 2015·American Journal of Human Genetics·Meng-Chang HsiaoLudwine Messiaen
Mar 10, 2015·Frontiers in Synaptic Neuroscience·Gesche BornMarkus Missler
Dec 6, 2018·International Journal of Molecular Sciences·Anke HoffmannDietmar Spengler
Mar 16, 2019·Clinical Genetics·Paola CastronovoAntonio M Persico

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cell Adhesion Molecules in the Brain

Cell adhesion molecules found on cell surface help cells bind with other cells or the extracellular matrix to maintain structure and function. Here is the latest research on their role in the brain.

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.

Cancer Genomics (Keystone)

Cancer genomics approaches employ high-throughput technologies to identify the complete catalog of somatic alterations that characterize the genome, transcriptome and epigenome of cohorts of tumor samples. Discover the latest research using such technologies in this feed.