pone.0261170.g006.tif (2.35 MB)
The Alu element sequence within RBMX2 gene in intron 3.
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posted on 2021-12-16, 18:49 authored by Pia Laine, William J. Rowell, Lars Paulin, Steve Kujawa, Denise Raterman, George Mayhew, Jennifer Wendt, Daniel L. Burgess, Timo Partonen, Tiina Paunio, Petri Auvinen, Jenny M. EkholmDirect repeats or target site duplications (TSDs) are shown in red, A5TACA5 box is shown in orange, and the long poly-A tail is shown in green. The 330 bp deleted sequence is underlined. (a) A structural scheme of an Alu element(21). (b) The sequence of the Alu element on the antisense strand (in relation to the RBMX2 gene) in the GRCh38.p13 primary assembly (>NC_000023.11:130,405,825–130,406,163 Homo sapiens chromosome X). (c) The reverse complement sequence of the Alu element in the GRCh38.p13 primary assembly (>NC_000023.11:c130,406,163–130,405,825 Homo sapiens chromosome X).
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read single moleculeleast four generationsentire 12mb regionadditional evidence supported9kb fragments spanning12mb genomic regionthree variants emergedrepresented common variantscandidate structural variantscritically linked regionperfect segregation among>) gene foundlinked 2 (<near genes belongingfamily segregates bd201 variantslinked (<showed nearleading candidateextended familysignificantly linkedxlink ">used longthird svrbmx2 rbmx intron 3intron 1increased riskgpr101 )genetic subg proteinfully characterizef9 disease haplotypedisease developmentcould explaincontributing directlychromosome xq24bipolar disorderbd typealuya5 )alu affected individuals
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