当前位置： SCI文献检索 > Genes期刊下所有文献 > Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States.

Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States.

Abstract：

:Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date only been reported in warmblood breeds but the WFFS allele has been also detected in the Thoroughbred. To investigate the breed distribution of the WFFS allele, 4081 horses belonging to 38 different breeds were screened. In total, 4.9% of the horses representing 21 breeds carried the WFFS allele. The affected breeds were mainly warmbloods, with carrier frequency as high as 17% in the Hanoverian and Danish Warmblood. The WFFS allele was not detected in most non-warmblood breeds. Exceptions include WFFS carriers in the Thoroughbred (17/716), Haflinger (2/48), American Sport Pony (1/12), and Knabstrupper (3/46). The origin of the WFFS allele remains unknown. The Arabian breed and specifically the stallion Bairactar Or. Ar. (1813), whose offspring were reported to have a similar phenotype in the 19th century, were hypothesized as the origin. DNA from a museum sample of Bairactar Or. Ar. showed that he did not carry the mutated allele. This result, together with the genotypes of 302 Arabians, all homozygous for the reference allele, does not support an Arabian origin of the WFFS allele. Our extensive survey shows the WFFS allele to be of moderate frequency and concern in warmbloods and also in breeds where it may not be expected.

journal_name

Genes (Basel)

journal_title

Genes

authors

Reiter S,Wallner B,Brem G,Haring E,Hoelzle L,Stefaniuk-Szmukier M,Długosz B,Piórkowska K,Ropka-Molik K,Malvick J,Penedo MCT,Bellone RR

doi

10.3390/genes11121518

subject

Has Abstract

pub_date

2020-12-18 00:00:00

issue

12

issn

2073-4425

pii

genes11121518

journal_volume

11

pub_type

杂志文章

相关文献

Genes文献大全
  • Extracurricular Functions of tRNA Modifications in Microorganisms.

    abstract：:Transfer RNAs (tRNAs) are essential adaptors that mediate translation of the genetic code. These molecules undergo a variety of post-transcriptional modifications, which expand their chemical reactivity while influencing their structure, stability, and functionality. Chemical modifications to tRNA ensure translational...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes11080907

    authors： Edwards AM,Addo MA,Dos Santos PC

    更新日期：2020-08-07 00:00:00

  • Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System.

    abstract：:The study of DNA to predict externally visible characteristics (EVCs) and the biogeographical ancestry (BGA) from unknown samples is gaining relevance in forensic genetics. Technical developments in Massively Parallel Sequencing (MPS) enable the simultaneous analysis of hundreds of DNA markers, which improves successf...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11060708

    authors： Palencia-Madrid L,Xavier C,de la Puente M,Hohoff C,Phillips C,Kayser M,Parson W

    更新日期：2020-06-26 00:00:00

  • mRNA Expression and DNA Methylation Analysis of Serotonin Receptor 2A (HTR2A) in the Human Schizophrenic Brain.

    abstract：:Serotonin receptor 2A (HTR2A) is an important signalling factor implicated in cognitive functions and known to be associated with schizophrenia. The biological significance of HTR2A in schizophrenia remains unclear as molecular analyses including genetic association, mRNA expression and methylation studies have report...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes8010014

    authors： Cheah SY,Lawford BR,Young RM,Morris CP,Voisey J

    更新日期：2017-01-04 00:00:00

  • Pharmacogenomics for Primary Care: An Overview.

    abstract：:Most of the prescribing and dispensing of medicines happens in primary care. Pharmacogenomics (PGx) is the study and clinical application of the role of genetic variation on drug response. Mounting evidence suggests PGx can improve the safety and/or efficacy of several medications commonly prescribed in primary care. ...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes11111337

    authors： Rollinson V,Turner R,Pirmohamed M

    更新日期：2020-11-12 00:00:00

  • High-Throughput Incubation and Quantification of Agglutination Assays in a Microfluidic System.

    abstract：:In this paper, we present a two-phase microfluidic system capable of incubating and quantifying microbead-based agglutination assays. The microfluidic system is based on a simple fabrication solution, which requires only laboratory tubing filled with carrier oil, driven by negative pressure using a syringe pump. We pr...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9060281

    authors： Castro D,Conchouso D,Kodzius R,Arevalo A,Foulds IG

    更新日期：2018-06-04 00:00:00

  • TCGA Pan-Cancer Genomic Analysis of Alternative Lengthening of Telomeres (ALT) Related Genes.

    abstract：:Telomere maintenance mechanisms (TMM) are used by cancer cells to avoid apoptosis, 85-90% reactivate telomerase, while 10-15% use the alternative lengthening of telomeres (ALT). Due to anti-telomerase-based treatments, some tumors switch from a telomerase-dependent mechanism to ALT; in fact, the co-existence between b...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11070834

    authors： Armendáriz-Castillo I,López-Cortés A,García-Cárdenas J,Guevara-Ramírez P,Leone PE,Pérez-Villa A,Yumiceba V,Zambrano AK,Guerrero S,Paz-Y-Miño C

    更新日期：2020-07-21 00:00:00

  • The POU Transcription Factor POU-M2 Regulates Vitellogenin Receptor Gene Expression in the Silkworm, Bombyx mori.

    abstract：:Vitellogenin receptors (VgRs) play critical roles in egg formation by transporting vitellogenin (Vg) into oocytes in insects. Although the function of VgR in insects is well studied, the transcriptional regulation of this gene is still unclear. Here, we cloned the promoter of the VgR gene from Bombyx mori (BmVgR), and...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11040394

    authors： Shen G,Chen E,Ji X,Liu L,Liu J,Hua X,Li D,Xiao Y,Xia Q

    更新日期：2020-04-06 00:00:00

  • Selection of Suitable Reference Genes for RT-qPCR Gene Expression Analysis in Siberian Wild Rye (Elymus sibiricus) under Different Experimental Conditions.

    abstract：:Elymus sibiricus, which is a perennial and self-pollinated grass, is the typical species of the genus Elymus, which plays an important role in forage production and ecological restoration. No reports have, so far, systematically described the selection of optimal reference genes for reverse transcriptase quantitative ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10060451

    authors： Zhang J,Xie W,Yu X,Zhang Z,Zhao Y,Wang N,Wang Y

    更新日期：2019-06-13 00:00:00

  • A 24-Week Physical Activity Intervention Increases Bone Mineral Content without Changes in Bone Markers in Youth with PWS.

    abstract：:Bone mineral density (BMD) is of concern in Prader-Willi syndrome (PWS). This study compared responses to a physical activity intervention in bone parameters and remodeling markers in youth with PWS (n = 45) and youth with non-syndromic obesity (NSO; n = 66). Measurements occurred at baseline (PRE) and after 24 weeks ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11090984

    authors： Rubin DA,Wilson KS,Orsso CE,Gertz ER,Haqq AM,Castner DM,Dumont-Driscoll M

    更新日期：2020-08-24 00:00:00

  • A Semi-Supervised Learning Algorithm for Predicting Four Types MiRNA-Disease Associations by Mutual Information in a Heterogeneous Network.

    abstract：:Increasing evidence suggests that dysregulation of microRNAs (miRNAs) may lead to a variety of diseases. Therefore, identifying disease-related miRNAs is a crucial problem. Currently, many computational approaches have been proposed to predict binary miRNA-disease associations. In this study, in order to predict under...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9030139

    authors： Zhang X,Yin J,Zhang X

    更新日期：2018-03-02 00:00:00

  • Identification and Conservation Analysis of Cis-Regulatory Elements in Pig Liver.

    abstract：:The liver plays a key role in metabolism and affects pig production. However, the functional annotation of noncoding regions of the pig liver remains poorly understood. We revealed the landscape of cis-regulatory elements and their functional characterization in pig liver. We identified 102,373 cis-regulatory elements...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10050348

    authors： Luan Y,Zhang L,Hu M,Xu Y,Hou Y,Li X,Zhao S,Zhao Y,Li C

    更新日期：2019-05-07 00:00:00

  • The Most Important Virulence Markers of Yersinia enterocolitica and Their Role during Infection.

    abstract：:Yersinia enterocolitica is the causative agent of yersiniosis, a zoonotic disease of growing epidemiological importance with significant consequences for public health. This pathogenic species has been intensively studied for many years. Six biotypes (1A, 1B, 2, 3, 4, 5) and more than 70 serotypes of Y. enterocolitica...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes9050235

    authors： Bancerz-Kisiel A,Pieczywek M,Łada P,Szweda W

    更新日期：2018-05-03 00:00:00

  • Transmission and Drive Involving Parasitic B Chromosomes.

    abstract：:B chromosomes (Bs) are enigmatic additional elements in the genomes of thousands of species of plants, animals, and fungi. How do these non-essential, harmful, and parasitic chromosomes maintain their presence in their hosts, making demands on all the essential functions of their host genomes? The answer seems to be t...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes9080388

    authors： Jones RN

    更新日期：2018-07-31 00:00:00

  • Opportunities and Challenges in Interpreting and Sharing Personal Genomes.

    abstract：:The 2019 "Personal Genomes: Accessing, Sharing and Interpretation" conference (Hinxton, UK, 11-12 April 2019) brought together geneticists, bioinformaticians, clinicians and ethicists to promote openness and ethical sharing of personal genome data while protecting the privacy of individuals. The talks at the conferenc...

    journal_title：Genes

    pub_type：

    doi：10.3390/genes10090643

    authors： Rubin IR,Glusman G

    更新日期：2019-08-25 00:00:00

  • Characterization of DNA Methylation in Circulating Tumor Cells.

    abstract：:Epigenetics contributes to molecular mechanisms leading to tumor cell transformation and systemic progression of cancer. However, the dynamics of epigenetic remodeling during metastasis remains unexplored. In this context, circulating tumor cells (CTCs) might enable a direct insight into epigenetic mechanisms relevant...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes6041053

    authors： Pixberg CF,Schulz WA,Stoecklein NH,Neves RP

    更新日期：2015-10-21 00:00:00

  • tRNA-Derived Small RNAs: Biogenesis, Modification, Function and Potential Impact on Human Disease Development.

    abstract：:Transfer RNAs (tRNAs) are abundant small non-coding RNAs that are crucially important for decoding genetic information. Besides fulfilling canonical roles as adaptor molecules during protein synthesis, tRNAs are also the source of a heterogeneous class of small RNAs, tRNA-derived small RNAs (tsRNAs). Occurrence and th...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes9120607

    authors： Oberbauer V,Schaefer MR

    更新日期：2018-12-05 00:00:00

  • MiRAR-miRNA Activity Reporter for Living Cells.

    abstract：:microRNA (miRNA) activity and regulation are of increasing interest as new therapeutic targets. Traditional approaches to assess miRNA levels in cells rely on RNA sequencing or quantitative PCR. While useful, these approaches are based on RNA extraction and cannot be applied in real-time to observe miRNA activity with...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9060305

    authors： Turk MA,Chung CZ,Manni E,Zukowski SA,Engineer A,Badakhshi Y,Bi Y,Heinemann IU

    更新日期：2018-06-19 00:00:00

  • Inositol Polyphosphate Multikinase (IPMK), a Gene Coding for a Potential Moonlighting Protein, Contributes to Human Female Longevity.

    abstract：:Biogerontological research highlighted a complex and dynamic connection between aging, health and longevity, partially determined by genetic factors. Multifunctional proteins with moonlighting features, by integrating different cellular activities in the space and time, may explain part of this complexity. Inositol Po...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10020125

    authors： De Rango F,Crocco P,Iannone F,Saiardi A,Passarino G,Dato S,Rose G

    更新日期：2019-02-08 00:00:00

  • Identification of Differentially Expressed Genes between Original Breast Cancer and Xenograft Using Machine Learning Algorithms.

    abstract：:Breast cancer is one of the most common malignancies in women. Patient-derived tumor xenograft (PDX) model is a cutting-edge approach for drug research on breast cancer. However, PDX still exhibits differences from original human tumors, thereby challenging the molecular understanding of tumorigenesis. In particular, ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9030155

    authors： Wang D,Li JR,Zhang YH,Chen L,Huang T,Cai YD

    更新日期：2018-03-12 00:00:00

  • How Hormones and MADS-Box Transcription Factors Are Involved in Controlling Fruit Set and Parthenocarpy in Tomato.

    abstract：:Fruit set is the earliest phase of fruit growth and represents the onset of ovary growth after successful fertilization. In parthenocarpy, fruit formation is less affected by environmental factors because it occurs in the absence of pollination and fertilization, making parthenocarpy a highly desired agronomic trait. ...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes11121441

    authors： Molesini B,Dusi V,Pennisi F,Pandolfini T

    更新日期：2020-11-30 00:00:00

  • Multigene Expression Assay for Assessment of the Immune Status of Atlantic Salmon.

    abstract：:We report the development of a multigene gene expression assay on the BioMark HD platform for the evaluation of immune competence (ImCom) in farmed Atlantic salmon. The first version of the assay included 92 genes selected on the basis of transcriptome analyses in 54 trials that challenged the immune system; annotatio...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11111236

    authors： Krasnov A,Afanasyev S,Nylund S,Rebl A

    更新日期：2020-10-22 00:00:00

  • Network-Based Methods for Identifying Key Active Proteins in the Extracellular Electron Transfer Process in Shewanella oneidensis MR-1.

    abstract：:Shewanella oneidensis MR-1 can transfer electrons from the intracellular environment to the extracellular space of the cells to reduce the extracellular insoluble electron acceptors (Extracellular Electron Transfer, EET). Benefiting from this EET capability, Shewanella has been widely used in different areas, such as ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9010041

    authors： Ding D,Sun X

    更新日期：2018-01-16 00:00:00

  • Search for Ancestral Features in Genomes of Rhizobium leguminosarum bv. viciae Strains Isolated from the Relict Legume Vavilovia formosa.

    abstract：:Vavilovia formosa is a relict leguminous plant growing in hard-to-reach habitats in the rocky highlands of the Caucasus and Middle East, and it is considered as the putative closest living relative of the last common ancestor (LCA) of the Fabeae tribe. Symbionts of Vavilovia belonging to Rhizobium leguminosarum bv. vi...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10120990

    authors： Chirak ER,Kimeklis AK,Karasev ES,Kopat VV,Safronova VI,Belimov AA,Aksenova TS,Kabilov MR,Provorov NA,Andronov EE

    更新日期：2019-12-01 00:00:00

  • Effect of ACTN3 R577X Genotype on Injury Epidemiology in Elite Endurance Runners.

    abstract：:The p.R577X polymorphism (rs1815739) in the ACTN3 gene causes individuals with the ACTN3 XX genotype to be deficient in functional α-actinin-3. Previous investigations have found that XX athletes are more prone to suffer non-contact muscle injuries. This investigation aimed to determine the influence of the ACTN3 R577...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes12010076

    authors： Gutiérrez-Hellín J,Baltazar-Martins G,Aguilar-Navarro M,Ruiz-Moreno C,Oliván J,Del Coso J

    更新日期：2021-01-08 00:00:00

  • A Hybrid Clustering Algorithm for Identifying Cell Types from Single-Cell RNA-Seq Data.

    abstract：:Single-cell RNA sequencing (scRNA-seq) has recently brought new insight into cell differentiation processes and functional variation in cell subtypes from homogeneous cell populations. A lack of prior knowledge makes unsupervised machine learning methods, such as clustering, suitable for analyzing scRNA-seq . However,...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10020098

    authors： Zhu X,Li HD,Xu Y,Guo L,Wu FX,Duan G,Wang J

    更新日期：2019-01-29 00:00:00

  • Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

    abstract：:The complete mutational spectrum of dystrophinopathies and limb-girdle muscular dystrophy (LGMD) remains unknown in Mexican population. Seventy-two unrelated Mexican male patients (73% of pediatric age) with clinical suspicion of muscular dystrophy and no evidence of DMD gene deletion on multiplex polymerase chain rea...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10110856

    authors： Alcántara-Ortigoza MA,Reyna-Fabián ME,González-Del Angel A,Estandia-Ortega B,Bermúdez-López C,Cruz-Miranda GM,Ruíz-García M

    更新日期：2019-10-29 00:00:00

  • Characterization and Transcriptome Studies of Autoinducer Synthase Gene from Multidrug Resistant Acinetobacter baumannii Strain 863.

    abstract：:Quorum sensing (QS) is a cell-to-cell communication system that uses autoinducers as signaling molecules to enable inter-species and intra-species interactions in response to external stimuli according to the population density. QS allows bacteria such as Acinetobacter baumannii to react rapidly in response to environ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10040282

    authors： Ng CK,How KY,Tee KK,Chan KG

    更新日期：2019-04-08 00:00:00

  • Control of DNA Damage Bypass by Ubiquitylation of PCNA.

    abstract：:DNA damage leads to genome instability by interfering with DNA replication. Cells possess several damage bypass pathways that mitigate the effects of DNA damage during replication. These pathways include translesion synthesis and template switching. These pathways are regulated largely through post-translational modif...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes11020138

    authors： Ripley BM,Gildenberg MS,Washington MT

    更新日期：2020-01-29 00:00:00

  • Evolution of Oxidative Phosphorylation (OXPHOS) Genes Reflecting the Evolutionary and Life Histories of Fig Wasps (Hymenoptera, Chalcidoidea).

    abstract：:Fig wasps are a peculiar group of insects which, for millions of years, have inhabited the enclosed syconia of fig trees. Considering the relatively closed and dark environment of fig syconia, we hypothesize that the fig wasps' oxidative phosphorylation (OXPHOS) pathway, which is the main oxygen consumption and adenos...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11111353

    authors： Zhou Y,Huang D,Xin Z,Xiao J

    更新日期：2020-11-15 00:00:00

  • DNA Barcoding Reveals High Levels of Divergence among Mitochondrial Lineages of Brycon (Characiformes, Bryconidae).

    abstract：:Brycon is an important group of Neotropical fish and the principal genus of the family Bryconidae, with 44 valid species that are found in some Central American rivers and practically all the major hydrographic basins of South America. These fish are medium to large in size, migratory, omnivorous, important seed dispe...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10090639

    authors： Arruda PSS,Ferreira DC,Oliveira C,Venere PC

    更新日期：2019-08-23 00:00:00