Abstract:
BACKGROUND:Crohn's disease (CD) is an inflammatory bowel disease caused by genetic and environmental factors. More than 160 susceptibility loci have been identified for IBD, yet a large part of the genetic variance remains unexplained. Recent studies have demonstrated genetic differences between monozygotic twins, who were long thought to be genetically completely identical. RESULTS:We aimed to test if somatic mutations play a role in CD etiology by sequencing the genomes and exomes of directly affected tissue from the bowel and blood samples of one and the blood-derived exomes of two further monozygotic discordant twin pairs. Our goal was the identification of mutations present only in the affected twins, pointing to novel candidates for CD susceptibility loci. We present a thorough genetic characterization of the sequenced individuals but detected no consistent differences within the twin pairs. An estimate of the CD susceptibility based on known CD loci however hinted at a higher mutational load in all three twin pairs compared to 1,920 healthy individuals. CONCLUSION:Somatic mosaicism does not seem to play a role in the discordance of monozygotic CD twins. Our study constitutes the first to perform whole genome sequencing for CD twins and therefore provides a valuable reference dataset for future studies. We present an example framework for mosaicism detection and point to the challenges in these types of analyses.
journal_name
BMC Genomicsjournal_title
BMC genomicsauthors
Petersen BS,Spehlmann ME,Raedler A,Stade B,Thomsen I,Rabionet R,Rosenstiel P,Schreiber S,Franke Adoi
10.1186/1471-2164-15-564subject
Has Abstractpub_date
2014-07-05 00:00:00pages
564issn
1471-2164pii
1471-2164-15-564journal_volume
15pub_type
杂志文章相关文献
BMC GENOMICS文献大全abstract:BACKGROUND:Alternative polyadenylation (APA) has emerged as a pervasive mechanism that contributes to the transcriptome complexity and dynamics of gene regulation. The current tsunami of whole genome poly(A) site data from various conditions generated by 3' end sequencing provides a valuable data source for the study o...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-019-5433-7
更新日期:2019-01-22 00:00:00
abstract:BACKGROUND:Ammonia is one of the most common toxicological environment factors affecting shrimp health. Although ammonia tolerance in shrimp is closely related to successful industrial production, few genetic studies of this trait are available. RESULTS:In this study, we constructed a high-density genetic map of the P...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-020-07254-x
更新日期:2020-12-02 00:00:00
abstract:BACKGROUND:Plant-bacteria associations have been extensively studied for their potential in increasing crop productivity in a sustainable manner. Serratia marcescens is a species of Enterobacteriaceae found in a wide range of environments, including soil. RESULTS:Here we describe the genome sequencing and assessment o...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-018-5130-y
更新日期:2018-10-16 00:00:00
abstract:BACKGROUND:The eyes and skin are obvious retinoid target organs. Vitamin A deficiency causes night blindness and retinoids are widely used to treat acne and psoriasis. However, more than 90% of total body retinol is stored in liver stellate cells. In addition, hepatocytes produce the largest amount of retinol binding p...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-14-575
更新日期:2013-08-28 00:00:00
abstract:BACKGROUND:To date, oil-rich plants are the main source of biodiesel products. Because concerns have been voiced about the impact of oil-crop cultivation on the price of food commodities, the interest in oil plants not used for food production and amenable to cultivation on non-agricultural land has soared. As a non-fo...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-11-462
更新日期:2010-08-06 00:00:00
abstract:BACKGROUND:Salmonella enterica is a significant foodborne pathogen, which can be transmitted via several distinct routes, and reports on acquisition of antimicrobial resistance (AMR) are increasing. To better understand the association between human Salmonella clinical isolates and the potential environmental/animal re...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-018-5137-4
更新日期:2018-11-06 00:00:00
abstract:BACKGROUND:Dermal papilla cells (DPCs), the "signaling center" of hair follicle (HF), delicately master continual growth of hair in mammals including cashmere, the fine fiber annually produced by secondary HF embedded in cashmere goat skins. Such unparalleled capacity bases on their exquisite character in instructing t...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-019-5861-4
更新日期:2019-06-20 00:00:00
abstract:BACKGROUND:The Yesso scallop, Patinopecten (Mizuhopecten) yessoensis, is a commercially important bivalve in the coastal countries of Northeast Asia. It has complex modes of sex differentiation, but knowledge of the mechanisms underlying this sex determination and differentiation is limited. RESULTS:In this study, the...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-019-6021-6
更新日期:2019-08-23 00:00:00
abstract:BACKGROUND:Exiguobacterium antarcticum strain B7 is a Gram-positive psychrotrophic bacterial species isolated in Antarctica. Although this bacteria has been poorly studied, its genome has already been sequenced. Therefore, it is an appropriate model for the study of thermal adaptation. In the present study, we analyzed...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-986
更新日期:2014-11-18 00:00:00
abstract:BACKGROUND:Brown and white adipose tissues (BAT and WAT) play critical roles in controlling energy homeostasis and in the development of obesity and diabetes. The mouse Fat-Specific protein 27 (FSP27), a member of the cell death-inducing DFF45-like effector (CIDE) family, is expressed in both BAT and WAT and is associa...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-11-446
更新日期:2010-07-22 00:00:00
abstract:BACKGROUND:Increasing evidence has shown that circular RNAs (circRNAs) are involved in neurodegenerative disorders, but their roles in neurological toxoplasmosis are yet to know. This study examined miRNA and circRNA expressions in mouse brain following oral infection with T. gondii Pru strain. RESULTS:Total RNA extra...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-020-6464-9
更新日期:2020-01-14 00:00:00
abstract:BACKGROUND:Chinese bayberry (Myrica rubra Sieb. and Zucc.) is an important subtropical fruit crop and an ideal species for fruit quality research due to the rapid and substantial changes that occur during development and ripening, including changes in fruit color and taste. However, research at the molecular level is l...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-13-19
更新日期:2012-01-13 00:00:00
abstract:BACKGROUND:Identifying the genotypes underlying human disease phenotypes is a fundamental step in human genetics and medicine. High-throughput genomic technologies provide thousands of genetic variants per individual. The causal genes of a specific phenotype are usually expected to be functionally close to each other. ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-256
更新日期:2014-04-03 00:00:00
abstract:BACKGROUND:Over the past 50,000 years, shifts in human-environmental or human-human interactions shaped genetic differences within and among human populations, including variants under positive selection. Shaped by environmental factors, such variants influence the genetics of modern health, disease, and treatment outc...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-16-S8-S8
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Milkweeds (Asclepias L.) have been extensively investigated in diverse areas of evolutionary biology and ecology; however, there are few genetic resources available to facilitate and compliment these studies. This study explored how low coverage genome sequencing of the common milkweed (Asclepias syriaca L.)...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-12-211
更新日期:2011-05-04 00:00:00
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
更新日期:2014-12-17 00:00:00
abstract:BACKGROUND:Post-translational modification (PTM) of proteins is central to many cellular processes across all domains of life, but despite decades of study and a wealth of genomic and proteomic data the biological function of many PTMs remains unknown. This is especially true for prokaryotic PTM systems, many of which ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-017-3676-8
更新日期:2017-04-17 00:00:00
abstract:BACKGROUND:Age-related gene expression patterns of Homo sapiens as well as of model organisms such as Mus musculus, Saccharomyces cerevisiae, Caenorhabditis elegans and Drosophila melanogaster are a basis for understanding the genetic mechanisms of ageing. For an effective analysis and interpretation of expression prof...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-12-262
更新日期:2011-05-24 00:00:00
abstract:BACKGROUND:An underlying tenet of the epigenetic code hypothesis is the existence of protein domains that can recognize various chromatin structures. To date, two major candidates have emerged: (i) the bromodomain, which can recognize certain acetylation marks and (ii) the chromodomain, which can recognize certain meth...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-7-6
更新日期:2006-01-16 00:00:00
abstract:BACKGROUND:Circannual rhythms in vertebrates can influence a wide variety of physiological processes. Some notable examples include annual reproductive cycles and for poikilotherms, seasonal changes modulating growth. Increasing water temperature elevates growth rates in fishes, but increases in photoperiod regime can ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-016-2363-5
更新日期:2016-01-15 00:00:00
abstract:BACKGROUND:Transversions (Tv's) are more likely to alter the amino acid sequence of proteins than transitions (Ts's), and local deviations in the Ts:Tv ratio are indicative of evolutionary selection on genes. Whether the two different types of mutations have different effects in non-protein-coding sequences remains unk...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-017-3785-4
更新日期:2017-05-19 00:00:00
abstract:BACKGROUND:Recent research has revealed that polymorphic behavioral strategies shape intra-and interspecific interactions and contribute to fitness in many animal species. A better understanding of the proximate mechanisms underlying these behavioral syndromes will enhance our grasp this phenomenon. Spiders in the genu...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-019-6172-5
更新日期:2019-11-22 00:00:00
abstract:BACKGROUND:The histone variant H2A.Z, which has been reported to have both activating and repressive effects on gene expression, is known to occupy nucleosomes at the 5' ends of protein-coding genes. RESULTS:We now find that H2A.Z is also significantly enriched in gene coding regions and at the 3' ends of genes in bud...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-015-1247-4
更新日期:2015-02-19 00:00:00
abstract:BACKGROUND:Two-component systems (TCSs) are modular and diverse signalling pathways, involving a stimulus-responsive transfer of phosphoryl groups from transmitter to partner receiver domains. TCS gene and domain organisation are both potentially informative regarding biological function, interaction partnerships and m...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-11-720
更新日期:2010-12-20 00:00:00
abstract:BACKGROUND:In the postgenome era, a prediction of response to treatment could lead to better dose selection for patients in radiotherapy. To identify a radiosensitive gene signature and elucidate related signaling pathways, four different microarray experiments were reanalyzed before radiotherapy. RESULTS:Radiosensiti...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-13-348
更新日期:2012-07-30 00:00:00
abstract:BACKGROUND:Typhoid fever is an infectious disease of global importance that is caused by Salmonella enterica subsp. enterica serovar Typhi (S. Typhi). This disease causes an estimated 200,000 deaths per year and remains a serious global health threat. S. Typhi is strictly a human pathogen, and some recovered individual...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-1007
更新日期:2014-11-20 00:00:00
abstract:BACKGROUND:Restriction-modification (R-M) systems protect bacteria and archaea from attacks by bacteriophages and archaeal viruses. An R-M system specifically recognizes short sites in foreign DNA and cleaves it, while such sites in the host DNA are protected by methylation. Prokaryotic viruses have developed a number ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-018-5324-3
更新日期:2018-12-07 00:00:00
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
更新日期:2006-03-21 00:00:00
abstract:BACKGROUND:The human neuroblastoma cell line, SH-SY5Y, is a commonly used cell line in studies related to neurotoxicity, oxidative stress, and neurodegenerative diseases. Although this cell line is often used as a cellular model for Parkinson's disease, the relevance of this cellular model in the context of Parkinson's...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-1154
更新日期:2014-12-20 00:00:00
abstract:BACKGROUND:The cellular proteome and metabolome are underlying dynamic regulation allowing rapid adaptation to changes in the environment. System-wide analysis of these dynamics will provide novel insights into mechanisms of stress adaptation for higher photosynthetic organisms. We applied pulsed-SILAC labeling to a ph...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-13-215
更新日期:2012-05-31 00:00:00