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Identification of causal mutation in two patients with Sotos Syndrome Features

ABSTRACT: We performed whole exome sequencing (WES) on genomic DNA derived from two patients with Sotos Syndrome Features. Sequencing (100 base pair paired-end) was performed on an Illumina Hiseq 2000 sequencer after enrichment of 62Mb of exonic and adjacent intronic sequences with TruSeq Exome Enrichment Kit (Illumina, San Diego, CA, USA).

PROVIDER: EGAS00001000993 | EGA |

REPOSITORIES: EGA

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Project description:Intragenic microRNAs (miRNAs), including both intronic and exonic miRNAs, accounting approximately 50% of total mammalian miRNAs. Previous studies showed that intragenic miRNAs are often co-expressed with their host genes, and thus it was believed that intragenic miRNAs and their host genes are derived from the same primary transcripts. However, we provide evidence to show here that the observations from previous studies might be biased due to the small number and the predominance of "broadly conserved" intronic miRNAs they studied. We analyzed expression correlation of hundreds intragenic miRNAs with their host genes in two human and one mouse sample sets resulting from genome-wide miRNA arrays and exon arrays. We found that on average over 60% of intragenic miRNAs might not be co-expressed with their host genes. We show that evolution conservation is the most important factor related to the probability of co-expression of intragenic miRNAs with host genes, and the greater conservation degree of intragenic miRNAs is associated with the higher co-expression rate. Surprisingly, exonic miRNAs have a much lower rate of coexpression with host genes than intronic miRNAs, and 80% of them likely do not share primary transcripts with overlapping exons in biogenesis. Although "broadly conserved" intronic miRNAs have much shorter introns and a higher co-expression rate than (less broadly) "conserved" or "poorly conserved" ones, there is no consistently significant link between host intron size and co-expression probability of intronic miRNAs. In sum, our data suggest that the majority of intragenic miRNAs might be transcribed independently from their host genes. We used microRNA array and exon array to get the correlation between miRNA and mRNA in different datasets: 81 human leukemia samples and 14 mouse es-eb samples. In this study, we analyzed 26 mouse samples using the Affymetrix Mouse Exon 1.0 ST platform. Array data was processed by Affymetrix Expression Console. No techinical replicates were performed.

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Identification of causal mutation in two patients with Sotos Syndrome Features

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