Evidence of uneven selective pressure on different subsets of the conserved human genome; implications for the significance of intronic and intergenic DNA.

Abstract:

BACKGROUND:Human genetic variation produces the wide range of phenotypic differences that make us individual. However, little is known about the distribution of variation in the most conserved functional regions of the human genome. We examined whether different subsets of the conserved human genome have been subjected to similar levels of selective constraint within the human population. We used set theory and high performance computing to carry out an analysis of the density of Single Nucleotide Polymorphisms (SNPs) within the evolutionary conserved human genome, at three different selective stringencies, intersected with exonic, intronic and intergenic coordinates. RESULTS:We demonstrate that SNP density across the genome is significantly reduced in conserved human sequences. Unexpectedly, we further demonstrate that, despite being conserved to the same degree, SNP density differs significantly between conserved subsets. Thus, both the conserved exonic and intronic genomes contain a significantly reduced density of SNPs compared to the conserved intergenic component. Furthermore the intronic and exonic subsets contain almost identical densities of SNPs indicating that they have been constrained to the same degree. CONCLUSION:Our findings suggest the presence of a selective linkage between the exonic and intronic subsets and ascribes increased significance to the role of introns in human health. In addition, the identification of increased plasticity within the conserved intergenic subset suggests an important role for this subset in the adaptation and diversification of the human population.

journal_name

BMC Genomics

journal_title

BMC genomics

authors

Davidson S,Starkey A,MacKenzie A

doi

10.1186/1471-2164-10-614

subject

Has Abstract

pub_date

2009-12-16 00:00:00

pages

614

issn

1471-2164

pii

1471-2164-10-614

journal_volume

10

pub_type

杂志文章
  • A multi-treatment experimental system to examine photosynthetic differentiation in the maize leaf.

    abstract:BACKGROUND:The establishment of C4 photosynthesis in maize is associated with differential accumulation of gene transcripts and proteins between bundle sheath and mesophyll photosynthetic cell types. We have physically separated photosynthetic cell types in the leaf blade to characterize differences in gene expression ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-8-12

    authors: Sawers RJ,Liu P,Anufrikova K,Hwang JT,Brutnell TP

    更新日期:2007-01-09 00:00:00

  • Genome-wide analysis of NBS-encoding disease resistance genes in Cucumis sativus and phylogenetic study of NBS-encoding genes in Cucurbitaceae crops.

    abstract:BACKGROUND:Plant nucleotide-binding site (NBS)-leucine-rich repeat (LRR) proteins encoded by resistance genes play an important role in the responses of plants to various pathogens, including viruses, bacteria, fungi, and nematodes. In this study, a comprehensive analysis of NBS-encoding genes within the whole cucumber...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-109

    authors: Wan H,Yuan W,Bo K,Shen J,Pang X,Chen J

    更新日期:2013-02-19 00:00:00

  • How many human genes can be defined as housekeeping with current expression data?

    abstract:BACKGROUND:Housekeeping (HK) genes are ubiquitously expressed in all tissue/cell types and constitute a basal transcriptome for the maintenance of basic cellular functions. Partitioning transcriptomes into HK and tissue-specific (TS) genes relatively is fundamental for studying gene expression and cellular differentiat...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-9-172

    authors: Zhu J,He F,Song S,Wang J,Yu J

    更新日期:2008-04-16 00:00:00

  • Predicting tissue specific transcription factor binding sites.

    abstract:BACKGROUND:Studies of gene regulation often utilize genome-wide predictions of transcription factor (TF) binding sites. Most existing prediction methods are based on sequence information alone, ignoring biological contexts such as developmental stages and tissue types. Experimental methods to study in vivo binding, inc...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-796

    authors: Zhong S,He X,Bar-Joseph Z

    更新日期:2013-11-15 00:00:00

  • Assisted clustering of gene expression data using ANCut.

    abstract:BACKGROUND:In biomedical research, gene expression profiling studies have been extensively conducted. The analysis of gene expression data has led to a deeper understanding of human genetics as well as practically useful models. Clustering analysis has been a critical component of gene expression data analysis and can ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-3990-1

    authors: Teran Hidalgo SJ,Wu M,Ma S

    更新日期:2017-08-16 00:00:00

  • Genome-wide identification of the histone acetyltransferase gene family in Triticum aestivum.

    abstract:BACKGROUND:Histone acetylation is a ubiquitous and reversible post-translational modification in eukaryotes and prokaryotes that is co-regulated by histone acetyltransferase (HAT) and histone deacetylase (HDAC). HAT activity is important for the modification of chromatin structure in eukaryotic cells, affecting gene tr...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-07348-6

    authors: Gao S,Li L,Han X,Liu T,Jin P,Cai L,Xu M,Zhang T,Zhang F,Chen J,Yang J,Zhong K

    更新日期:2021-01-11 00:00:00

  • The Zygosaccharomyces bailii transcription factor Haa1 is required for acetic acid and copper stress responses suggesting subfunctionalization of the ancestral bifunctional protein Haa1/Cup2.

    abstract:BACKGROUND:The food spoilage yeast species Zygosaccharomyces bailii exhibits an extraordinary capacity to tolerate weak acids, in particular acetic acid. In Saccharomyces cerevisiae, the transcription factor Haa1 (ScHaa1) is considered the main player in genomic expression reprogramming in response to acetic acid stres...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-016-3443-2

    authors: Palma M,Dias PJ,Roque FC,Luzia L,Guerreiro JF,Sá-Correia I

    更新日期:2017-01-13 00:00:00

  • Identification of chilling stress-responsive tomato microRNAs and their target genes by high-throughput sequencing and degradome analysis.

    abstract:BACKGROUND:MicroRNAs (miRNAs) are a class of noncoding small RNAs (sRNAs) that are 20-24 nucleotides (nt) in length. Extensive studies have indicated that miRNAs play versatile roles in plants, functioning in processes such as growth, development and stress responses. Chilling is a common abiotic stress that seriously ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-1130

    authors: Cao X,Wu Z,Jiang F,Zhou R,Yang Z

    更新日期:2014-12-17 00:00:00

  • The genetic regulation of size variation in the transcriptome of the cerebrum in the chicken and its role in domestication and brain size evolution.

    abstract:BACKGROUND:Large difference in cerebrum size exist between avian species and populations of the same species and is believed to reflect differences in processing power, i.e. in the speed and efficiency of processing information in this brain region. During domestication chickens developed a larger cerebrum compared to ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-06908-0

    authors: Höglund A,Strempfl K,Fogelholm J,Wright D,Henriksen R

    更新日期:2020-07-29 00:00:00

  • A database of circadian and diel rhythmic gene expression in the yellow fever mosquito Aedes aegypti.

    abstract:BACKGROUND:The mosquito species Aedes aegypti is the primary vector of many arboviral diseases, including dengue and yellow fevers, that are responsible for a large worldwide health burden. The biological rhythms of mosquitoes regulate many of the physiological processes and behaviors that influence the transmission of...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-1128

    authors: Leming MT,Rund SS,Behura SK,Duffield GE,O'Tousa JE

    更新日期:2014-12-17 00:00:00

  • Integrative phenotyping framework (iPF): integrative clustering of multiple omics data identifies novel lung disease subphenotypes.

    abstract:BACKGROUND:The increased multi-omics information on carefully phenotyped patients in studies of complex diseases requires novel methods for data integration. Unlike continuous intensity measurements from most omics data sets, phenome data contain clinical variables that are binary, ordinal and categorical. RESULTS:In ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-2170-4

    authors: Kim S,Herazo-Maya JD,Kang DD,Juan-Guardela BM,Tedrow J,Martinez FJ,Sciurba FC,Tseng GC,Kaminski N

    更新日期:2015-11-11 00:00:00

  • A genome-wide analysis of the lysophosphatidate acyltransferase (LPAAT) gene family in cotton: organization, expression, sequence variation, and association with seed oil content and fiber quality.

    abstract:BACKGROUND:Lysophosphatidic acid acyltransferase (LPAAT) encoded by a multigene family is a rate-limiting enzyme in the Kennedy pathway in higher plants. Cotton is the most important natural fiber crop and one of the most important oilseed crops. However, little is known on genes coding for LPAATs involved in oil biosy...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-3594-9

    authors: Wang N,Ma J,Pei W,Wu M,Li H,Li X,Yu S,Zhang J,Yu J

    更新日期:2017-03-01 00:00:00

  • A potential role for intragenic miRNAs on their hosts' interactome.

    abstract:BACKGROUND:miRNAs are small, non-coding RNA molecules that mainly act as negative regulators of target gene messages. Due to their regulatory functions, they have lately been implicated in several diseases, including malignancies. Roughly half of known miRNA genes are located within previously annotated protein-coding ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-11-533

    authors: Hinske LC,Galante PA,Kuo WP,Ohno-Machado L

    更新日期:2010-10-01 00:00:00

  • Genome-scale identification of Caenorhabditis elegans regulatory elements by tiling-array mapping of DNase I hypersensitive sites.

    abstract:BACKGROUND:A major goal of post-genomics research is the integrated analysis of genes, regulatory elements and the chromatin architecture on a genome-wide scale. Mapping DNase I hypersensitive sites within the nuclear chromatin is a powerful and well-established method of identifying regulatory element candidates. RES...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-10-92

    authors: Shi B,Guo X,Wu T,Sheng S,Wang J,Skogerbø G,Zhu X,Chen R

    更新日期:2009-02-25 00:00:00

  • Deep sequencing for de novo construction of a marine fish (Sparus aurata) transcriptome database with a large coverage of protein-coding transcripts.

    abstract:BACKGROUND:The gilthead sea bream (Sparus aurata) is the main fish species cultured in the Mediterranean area and constitutes an interesting model of research. Nevertheless, transcriptomic and genomic data are still scarce for this highly valuable species. A transcriptome database was constructed by de novo assembly of...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-178

    authors: Calduch-Giner JA,Bermejo-Nogales A,Benedito-Palos L,Estensoro I,Ballester-Lozano G,Sitjà-Bobadilla A,Pérez-Sánchez J

    更新日期:2013-03-15 00:00:00

  • Genetic and codon usage bias analyses of polymerase genes of equine influenza virus and its relation to evolution.

    abstract:BACKGROUND:Equine influenza is a major health problem of equines worldwide. The polymerase genes of influenza virus have key roles in virus replication, transcription, transmission between hosts and pathogenesis. Hence, the comprehensive genetic and codon usage bias of polymerase genes of equine influenza virus (EIV) w...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-4063-1

    authors: Bera BC,Virmani N,Kumar N,Anand T,Pavulraj S,Rash A,Elton D,Rash N,Bhatia S,Sood R,Singh RK,Tripathi BN

    更新日期:2017-08-23 00:00:00

  • The landscape of mitochondrial small non-coding RNAs in the PGCs of male mice, spermatogonia, gametes and in zygotes.

    abstract:BACKGROUND:Mitochondria are organelles that fulfill a fundamental role in cell bioenergetics, as well as in other processes like cell signaling and death. Small non-coding RNAs (sncRNA) are now being considered as pivotal post-transcriptional regulators, widening the landscape of their diversity and functions. In mamma...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-018-5020-3

    authors: Larriba E,Rial E,Del Mazo J

    更新日期:2018-08-28 00:00:00

  • Flatfish monophyly refereed by the relationship of Psettodes in Carangimorphariae.

    abstract:BACKGROUND:The monophyly of flatfishes has not been supported in many molecular phylogenetic studies. The monophyly of Pleuronectoidei, which comprises all but one family of flatfishes, is broadly supported. However, the Psettodoidei, comprising the single family Psettodidae, is often found to be most closely related t...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-018-4788-5

    authors: Shi W,Chen S,Kong X,Si L,Gong L,Zhang Y,Yu H

    更新日期:2018-05-25 00:00:00

  • P_RNA_scaffolder: a fast and accurate genome scaffolder using paired-end RNA-sequencing reads.

    abstract:BACKGROUND:Obtaining complete gene structures is one major goal of genome assembly. Some gene regions are fragmented in low quality and high-quality assemblies. Therefore, new approaches are needed to recover gene regions. Genomes are widely transcribed, generating messenger and non-coding RNAs. These widespread transc...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-018-4567-3

    authors: Zhu BH,Xiao J,Xue W,Xu GC,Sun MY,Li JT

    更新日期:2018-03-02 00:00:00

  • Genomic characterization of JG068, a novel virulent podovirus active against Burkholderia cenocepacia.

    abstract:BACKGROUND:As is true for many other antibiotic-resistant Gram-negative pathogens, members of the Burkholderia cepacia complex (BCC) are currently being assessed for their susceptibility to phage therapy as an antimicrobial treatment. The objective of this study was to perform genomic and limited functional characteriz...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-574

    authors: Lynch KH,Abdu AH,Schobert M,Dennis JJ

    更新日期:2013-08-27 00:00:00

  • Reductive evolution and the loss of PDC/PAS domains from the genus Staphylococcus.

    abstract:BACKGROUND:The Per-Arnt-Sim (PAS) domain represents a ubiquitous structural fold that is involved in bacterial sensing and adaptation systems, including several virulence related functions. Although PAS domains and the subclass of PhoQ-DcuS-CitA (PDC) domains have a common structure, there is limited amino acid sequenc...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-524

    authors: Shah N,Gaupp R,Moriyama H,Eskridge KM,Moriyama EN,Somerville GA

    更新日期:2013-07-31 00:00:00

  • Characteristics and clustering of human ribosomal protein genes.

    abstract:BACKGROUND:The ribosome is a central player in the translation system, which in mammals consists of four RNA species and 79 ribosomal proteins (RPs). The control mechanisms of gene expression and the functions of RPs are believed to be identical. Most RP genes have common promoters and were therefore assumed to have a ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-7-37

    authors: Ishii K,Washio T,Uechi T,Yoshihama M,Kenmochi N,Tomita M

    更新日期:2006-02-28 00:00:00

  • Hepatic transcriptomic profiling reveals early toxicological mechanisms of uranium in Atlantic salmon (Salmo salar).

    abstract:BACKGROUND:Uranium (U) is a naturally occurring radionuclide that has been found in the aquatic environment due to anthropogenic activities. Exposure to U may pose risk to aquatic organisms due to its radiological and chemical toxicity. The present study aimed to characterize the chemical toxicity of U in Atlantic salm...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-694

    authors: Song Y,Salbu B,Teien HC,Sørlie Heier L,Rosseland BO,Høgåsen T,Tollefsen KE

    更新日期:2014-08-20 00:00:00

  • A systematic evaluation of expression of HERV-W elements; influence of genomic context, viral structure and orientation.

    abstract:BACKGROUND:One member of the W family of human endogenous retroviruses (HERV) appears to have been functionally adopted by the human host. Nevertheless, a highly diversified and regulated transcription from a range of HERV-W elements has been observed in human tissues and cells. Aberrant expression of members of this f...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-12-22

    authors: Li F,Nellåker C,Yolken RH,Karlsson H

    更新日期:2011-01-12 00:00:00

  • Genomic and systems evolution in Vibrionaceae species.

    abstract:BACKGROUND:The steadily increasing number of prokaryotic genomes has accelerated the study of genome evolution; in particular, the availability of sets of genomes from closely related bacteria has facilitated the exploration of the mechanisms underlying genome plasticity. The family Vibrionaceae is found in the Gammapr...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-10-S1-S11

    authors: Gu J,Neary J,Cai H,Moshfeghian A,Rodriguez SA,Lilburn TG,Wang Y

    更新日期:2009-07-07 00:00:00

  • Comparative analysis of protein-protein interactions in the defense response of rice and wheat.

    abstract:BACKGROUND:Despite the importance of wheat as a major staple crop and the negative impact of diseases on its production worldwide, the genetic mechanisms and gene interactions involved in the resistance response in wheat are still poorly understood. The complete sequence of the rice genome has provided an extremely use...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-166

    authors: Cantu D,Yang B,Ruan R,Li K,Menzo V,Fu D,Chern M,Ronald PC,Dubcovsky J

    更新日期:2013-03-12 00:00:00

  • Inferring microbial interaction networks from metagenomic data using SgLV-EKF algorithm.

    abstract:BACKGROUND:Inferring the microbial interaction networks (MINs) and modeling their dynamics are critical in understanding the mechanisms of the bacterial ecosystem and designing antibiotic and/or probiotic therapies. Recently, several approaches were proposed to infer MINs using the generalized Lotka-Volterra (gLV) mode...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-3605-x

    authors: Alshawaqfeh M,Serpedin E,Younes AB

    更新日期:2017-03-27 00:00:00

  • RNA-seq analysis reveals genetic response and tolerance mechanisms to ozone exposure in soybean.

    abstract:BACKGROUND:Oxidative stress caused by ground level ozone is a contributor to yield loss in a number of important crop plants. Soybean (Glycine max) is considered to be ozone sensitive, and current research into its response to oxidative stress is limited. To better understand the genetic response in soybean to oxidativ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-1637-7

    authors: Whaley A,Sheridan J,Safari S,Burton A,Burkey K,Schlueter J

    更新日期:2015-06-04 00:00:00

  • Digital genotyping of sorghum - a diverse plant species with a large repeat-rich genome.

    abstract:BACKGROUND:Rapid acquisition of accurate genotyping information is essential for all genetic marker-based studies. For species with relatively small genomes, complete genome resequencing is a feasible approach for genotyping; however, for species with large and highly repetitive genomes, the acquisition of whole genome...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-448

    authors: Morishige DT,Klein PE,Hilley JL,Sahraeian SM,Sharma A,Mullet JE

    更新日期:2013-07-05 00:00:00

  • Comparison of gene coverage of mouse oligonucleotide microarray platforms.

    abstract:BACKGROUND:The increasing use of DNA microarrays for genetical genomics studies generates a need for platforms with complete coverage of the genome. We have compared the effective gene coverage in the mouse genome of different commercial and noncommercial oligonucleotide microarray platforms by performing an in-house g...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-7-58

    authors: Verdugo RA,Medrano JF

    更新日期:2006-03-21 00:00:00