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VARIANT
CALLING
Whole Genome
Sequencing
VARIANT CALLING
Whole Genome Sequencing
Virilizer (Vir), first isolated from Drosophila
melanogaster, plays a role in sex determination. In
humans, its homologue and METTL3 are involved in
N6-adenosine methylation (m6A) writing. As m6A of
mRNA is an important process in most eukaryotes, it is
very important to understand its role and the status of
factors accompanying this modification. Whole
genome sequencing enables the genome-wide
mutation profiling in the vir-1 mutant of Arbidopsis.
Applications
Features
◆ Single base-pair resolution
◆ Genome-wide variation profiling (SNPs, InDels,
CNVs, SVs)
◆ De novo assembly or reference-based assembly
◆ Create a reference genome
◆ Population evolution and phylogenetic studies
◆ Disease research, drug discovery and development,
and personalized medicine
Whole
Genome Sequencing
VARIANT CALLING
Whole Genome Sequencing
-1-
The vir-1 mutant was isolated in an ethyl
methanesulfonate (EMS) mutagenesis screening for
reduced and irregular AHP6prom:GFP expression
(AHP6 is a factor required for protoxylem formation
in Arabidopsis). Total DNA was extracted and
subjected to whole genome sequencing on
Illumina instruments, so as to identify the mutations
and functions of Virilizer in Arabidopsis.
Assay
Overview
VARIANT CALLING
Whole Genome Sequencing
-2-
The vir-1 mutation (orthologous to the splicing
regulator/m6A writer protein Virilizer) is caused by
a G-to-A conversion at the first nucleotide of the
5th intron of the VIR gene. Although the vir-1
mutation does not significantly change VIR
expression levels at α0.05, it leads to numerous
predominantly wrongly spliced VIR transcripts as
detected by RT-PCR.
Data
Overview
VARIANT CALLING
Whole Genome Sequencing
-3-
Researchers use combined methods of genetics,
proteomics and RNA biochemistry to investigate a
core set of m6A write proteins in A. thaliana, which
includes MTA, MTB, FIP37, Virilizer and the E3 ubiquitin
ligase HAKAI.
Conclusions
Reference:
Růžička K, Zhang M, Campilho A, et al. Identification of factors
required for m6A mRNA methylation in Arabidopsis reveals a
role for the conserved E3 ubiquitin ligase HAKAI. New Phytologist,
2017, 215(1): 157-172.
VARIANT CALLING
Whole Genome Sequencing
-4-
Contact CD Genomics for more inspiration and service content.

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Whole Genome Sequencing

  • 2. Virilizer (Vir), first isolated from Drosophila melanogaster, plays a role in sex determination. In humans, its homologue and METTL3 are involved in N6-adenosine methylation (m6A) writing. As m6A of mRNA is an important process in most eukaryotes, it is very important to understand its role and the status of factors accompanying this modification. Whole genome sequencing enables the genome-wide mutation profiling in the vir-1 mutant of Arbidopsis. Applications Features ◆ Single base-pair resolution ◆ Genome-wide variation profiling (SNPs, InDels, CNVs, SVs) ◆ De novo assembly or reference-based assembly ◆ Create a reference genome ◆ Population evolution and phylogenetic studies ◆ Disease research, drug discovery and development, and personalized medicine Whole Genome Sequencing VARIANT CALLING Whole Genome Sequencing -1-
  • 3. The vir-1 mutant was isolated in an ethyl methanesulfonate (EMS) mutagenesis screening for reduced and irregular AHP6prom:GFP expression (AHP6 is a factor required for protoxylem formation in Arabidopsis). Total DNA was extracted and subjected to whole genome sequencing on Illumina instruments, so as to identify the mutations and functions of Virilizer in Arabidopsis. Assay Overview VARIANT CALLING Whole Genome Sequencing -2-
  • 4. The vir-1 mutation (orthologous to the splicing regulator/m6A writer protein Virilizer) is caused by a G-to-A conversion at the first nucleotide of the 5th intron of the VIR gene. Although the vir-1 mutation does not significantly change VIR expression levels at α0.05, it leads to numerous predominantly wrongly spliced VIR transcripts as detected by RT-PCR. Data Overview VARIANT CALLING Whole Genome Sequencing -3-
  • 5. Researchers use combined methods of genetics, proteomics and RNA biochemistry to investigate a core set of m6A write proteins in A. thaliana, which includes MTA, MTB, FIP37, Virilizer and the E3 ubiquitin ligase HAKAI. Conclusions Reference: Růžička K, Zhang M, Campilho A, et al. Identification of factors required for m6A mRNA methylation in Arabidopsis reveals a role for the conserved E3 ubiquitin ligase HAKAI. New Phytologist, 2017, 215(1): 157-172. VARIANT CALLING Whole Genome Sequencing -4- Contact CD Genomics for more inspiration and service content.