Nucleotide diversity analysis highlights functionally important genomic regions

We analyzed functionality and relative distribution of genetic variants across the complete Oryza sativa genome, using the 40 million single nucleotide polymorphisms (SNPs) dataset from the 3,000 Rice Genomes Project (http://snp-seek.irri.org), the largest and highest density SNP collection for any...

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Main Authors: Tatarinova, Tatiana V., Chekalin, Evgeny, Nikolsky, Yuri, Bruskin, Sergey, Chebotarov, Dmitry, McNally, Kenneth L., Alexandrov, Nickolai
Format: Journal Article
Language:Inglés
Published: Springer 2016
Online Access:https://hdl.handle.net/10568/165189
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author Tatarinova, Tatiana V.
Chekalin, Evgeny
Nikolsky, Yuri
Bruskin, Sergey
Chebotarov, Dmitry
McNally, Kenneth L.
Alexandrov, Nickolai
author_browse Alexandrov, Nickolai
Bruskin, Sergey
Chebotarov, Dmitry
Chekalin, Evgeny
McNally, Kenneth L.
Nikolsky, Yuri
Tatarinova, Tatiana V.
author_facet Tatarinova, Tatiana V.
Chekalin, Evgeny
Nikolsky, Yuri
Bruskin, Sergey
Chebotarov, Dmitry
McNally, Kenneth L.
Alexandrov, Nickolai
author_sort Tatarinova, Tatiana V.
collection Repository of Agricultural Research Outputs (CGSpace)
description We analyzed functionality and relative distribution of genetic variants across the complete Oryza sativa genome, using the 40 million single nucleotide polymorphisms (SNPs) dataset from the 3,000 Rice Genomes Project (http://snp-seek.irri.org), the largest and highest density SNP collection for any higher plant. We have shown that the DNA-binding transcription factors (TFs) are the most conserved group of genes, whereas kinases and membrane-localized transporters are the most variable ones. TFs may be conserved because they belong to some of the most connected regulatory hubs that modulate transcription of vast downstream gene networks, whereas signaling kinases and transporters need to adapt rapidly to changing environmental conditions. In general, the observed profound patterns of nucleotide variability reveal functionally important genomic regions. As expected, nucleotide diversity is much higher in intergenic regions than within gene bodies (regions spanning gene models), and protein-coding sequences are more conserved than untranslated gene regions. We have observed a sharp decline in nucleotide diversity that begins at about 250 nucleotides upstream of the transcription start and reaches minimal diversity exactly at the transcription start. We found the transcription termination sites to have remarkably symmetrical patterns of SNP density, implying presence of functional sites near transcription termination. Also, nucleotide diversity was significantly lower near 3′ UTRs, the area rich with regulatory regions.
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spelling CGSpace1651892024-12-19T14:13:10Z Nucleotide diversity analysis highlights functionally important genomic regions Tatarinova, Tatiana V. Chekalin, Evgeny Nikolsky, Yuri Bruskin, Sergey Chebotarov, Dmitry McNally, Kenneth L. Alexandrov, Nickolai We analyzed functionality and relative distribution of genetic variants across the complete Oryza sativa genome, using the 40 million single nucleotide polymorphisms (SNPs) dataset from the 3,000 Rice Genomes Project (http://snp-seek.irri.org), the largest and highest density SNP collection for any higher plant. We have shown that the DNA-binding transcription factors (TFs) are the most conserved group of genes, whereas kinases and membrane-localized transporters are the most variable ones. TFs may be conserved because they belong to some of the most connected regulatory hubs that modulate transcription of vast downstream gene networks, whereas signaling kinases and transporters need to adapt rapidly to changing environmental conditions. In general, the observed profound patterns of nucleotide variability reveal functionally important genomic regions. As expected, nucleotide diversity is much higher in intergenic regions than within gene bodies (regions spanning gene models), and protein-coding sequences are more conserved than untranslated gene regions. We have observed a sharp decline in nucleotide diversity that begins at about 250 nucleotides upstream of the transcription start and reaches minimal diversity exactly at the transcription start. We found the transcription termination sites to have remarkably symmetrical patterns of SNP density, implying presence of functional sites near transcription termination. Also, nucleotide diversity was significantly lower near 3′ UTRs, the area rich with regulatory regions. 2016-10-24 2024-12-19T12:54:49Z 2024-12-19T12:54:49Z Journal Article https://hdl.handle.net/10568/165189 en Open Access Springer Tatarinova, Tatiana V.; Chekalin, Evgeny; Nikolsky, Yuri; Bruskin, Sergey; Chebotarov, Dmitry; McNally, Kenneth L. and Alexandrov, Nickolai. 2016. Nucleotide diversity analysis highlights functionally important genomic regions. Sci Rep, Volume 6, no. 1
spellingShingle Tatarinova, Tatiana V.
Chekalin, Evgeny
Nikolsky, Yuri
Bruskin, Sergey
Chebotarov, Dmitry
McNally, Kenneth L.
Alexandrov, Nickolai
Nucleotide diversity analysis highlights functionally important genomic regions
title Nucleotide diversity analysis highlights functionally important genomic regions
title_full Nucleotide diversity analysis highlights functionally important genomic regions
title_fullStr Nucleotide diversity analysis highlights functionally important genomic regions
title_full_unstemmed Nucleotide diversity analysis highlights functionally important genomic regions
title_short Nucleotide diversity analysis highlights functionally important genomic regions
title_sort nucleotide diversity analysis highlights functionally important genomic regions
url https://hdl.handle.net/10568/165189
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