FLNC missense variants in familial noncompaction cardiomyopathy
CARDIOGENETICS
Authors: van Waning, Jaap, I; Hoedemaekers, Yvonne M.; te Rijdt, Wouter P.; Jpma, Arne, I; Heijsman, Daphne; Caliskan, Kadir; Hoendermis, Elke S.; Willems, Tineke P.; van den Wijngaard, Arthur; Suurmeijer, Albert; van Slegtenhorst, Marjon A.; Jongbloed, Jan D. H.; Majoor-Krakauer, Danielle F.; van der Zwaag, Paul A.
Abstract
The majority of familial noncompaction cardiomyopathy (NCCM) is explained by pathogenic variants in the same sarcomeric genes that are associated with hypertrophic (HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C gene (FLNC) have been linked to HCM and DCM. We expand the spectrum of FLNC related cardiomyopathies by presenting two families with likely pathogenic FLNC variants showing familial segregation of NCCM and concurrent coarctation of the aorta and/or mitral valve abnormalities.
Analysis of Alternative Splicing and Alternative Polyadenylation in Populus alba var. pyramidalis by Single-Molecular Long-Read Sequencing
FRONTIERS IN GENETICS
Authors: Hu, Hongyin; Yang, Wenlu; Zheng, Zeyu; Niu, Zhimin; Yang, Yongzhi; Wan, Dongshi; Liu, Jianquan; Ma, Tao
Abstract
Poplars are worldwidely cultivated with ecologically and economically important value. Populus alba var. pyramidalis (= P. bolleana) is a main tree of the farmland shelter-belt system in the arid region of Northwest China due to its rapid growth, erect stems, and high biomass production. However, the full-length messenger RNA (mRNA) sequences and complete structure of P. alba var. pyramidalis remain unclear. In this study, using single-molecular real-time (SMRT) and next-generation high-throughput sequencing (NGS) platform, we sequenced transcripts from leaf, root, xylem, and phloem of P. alba var. pyramidalis, to obtain the full-length mRNA transcripts and annotate the complete structure. In total, 86,327 mapped full-length non-chimeric (FLNC) reads were identified, with 705 previously unannotated loci and 3,410 long noncoding RNAs (lncRNAs) and 174 fusion genes found. Alternative spicing (AS) events were detected in 7,536 genes, of which 4,652 genes had multiple AS events. A total of 10,213 alternative polyadenylation (APA) sites were identified, with two or more APA sites observed in 2,212 genes. Our transcriptome data provided the full-length sequences and gene isoforms of transcripts for P. alba var. pyramidalis, which will be helpful in improving our understanding for the genome annotation and gene structures of P. alba var. pyramidalis.
COA
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