Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder

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Laine , P , Rowell , W J , Paulin , L , Kujawa , S , Raterman , D , Mayhew , G , Wendt , J , Burgess , D L , Partonen , T , Paunio , T , Auvinen , P & Ekholm , J M 2021 , ' Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder ' , PLoS One , vol. 16 , no. 12 , 0261170 .

Title: Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder
Author: Laine, Pia; Rowell, William J.; Paulin, Lars; Kujawa, Steve; Raterman, Denise; Mayhew, George; Wendt, Jennifer; Burgess, Daniel L.; Partonen, Timo; Paunio, Tiina; Auvinen, Petri; Ekholm, Jenny M.
Contributor organization: Institute of Biotechnology
HUS Psychiatry
Department of Psychiatry
DNA Sequencing and Genomics
Date: 2021-12-16
Language: eng
Number of pages: 18
Belongs to series: PLoS One
ISSN: 1932-6203
Abstract: Objective We have used long-read single molecule, real-time (SMRT) sequencing to fully characterize a similar to 12Mb genomic region on chromosome Xq24-q27, significantly linked to bipolar disorder (BD) in an extended family from a genetic sub-isolate. This family segregates BD in at least four generations with 24 affected individuals. Methods We selected 16 family members for targeted sequencing. The selected individuals either carried the disease haplotype, were non-carriers of the disease haplotype, or served as married-in controls. We designed hybrid capture probes enriching for 5-9Kb fragments spanning the entire 12Mb region that were then sequenced to screen for candidate structural variants (SVs) that could explain the increased risk for BD in this extended family. Results Altogether, 201 variants were detected in the critically linked region. Although most of these represented common variants, three variants emerged that showed near-perfect segregation among all BD type I affected individuals. Two of the SVs were identified in or near genes belonging to the RNA Binding Motif Protein, X-Linked (RBMX) gene family-a 330bp Alu (subfamily AluYa5) deletion in intron 3 of the RBMX2 gene and an intergenic 27bp tandem repeat deletion between the RBMX and G protein-coupled receptor 101 (GPR101) genes. The third SV was a 50bp tandem repeat insertion in intron 1 of the Coagulation Factor IX (F9) gene. Conclusions Among the three genetically linked SVs, additional evidence supported the Alu element deletion in RBMX2 as the leading candidate for contributing directly to the disease development of BD type I in this extended family.
Subject: 1184 Genetics, developmental biology, physiology
3112 Neurosciences
3124 Neurology and psychiatry
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion

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