Abstract：
BACKGROUND:The disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing (AS) of FMR1 can affect the structure and function of FMRP. However, the biological functions of alternatively spliced isoforms remain elusive. In a previous study, we identified a new 140bp exon from the intron 9 of human FMR1 gene. In this study, we further examined the biological functions of this new exon and its underlying signaling pathways. RESULTS:qRT-PCR results showed that this novel exon is commonly expressed in the peripheral blood of normal individuals. Comparative genomics showed that sequences paralogous to the 140 bp sequence only exist in the genomes of primates. To explore the biological functions of the new transcript, we constructed recombinant eukaryotic expression vectors and lentiviral overexpression vectors. Results showed that the spliced transcript encoded a truncated protein which was expressed mainly in the cell nucleus. Additionally, several genes, including the BEX1 gene involved in mGluR-LTP or mGluR-LTD signaling pathways were significantly influenced when the truncated FMRP was overexpressed. CONCLUSIONS:our work identified a new exon from amid intron 9 of human FMR1 gene with wide expression in normal healthy individuals, which emphasizes the notion that the AS of FMR1 gene is complex and may in a large part account for the multiple functions of FMRP.
journal_name
BMC Genetjournal_title
BMC geneticsauthors
Yang WJ,Yan AZ,Xu YJ,Guo XY,Fu XG,Li D,Liao J,Zhang D,Lan FHdoi
10.1186/s12863-020-00870-2subject
Has Abstractpub_date
2020-06-18 00:00:00pages
63issue
1issn
1471-2156pii
10.1186/s12863-020-00870-2journal_volume
21pub_type
杂志文章相关文献
BMC GENETICS文献大全abstract：BACKGROUND:This study aimed to explore the molecular mechanism of estrogen-mediated neuroprotection in the relief of cerebral ischemic injury. The gene expression profiles were downloaded from Gene Expression Omnibus database, and differentially expressed genes (DEGs) were identified using limma package in R software. ...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-018-0630-y
更新日期：2018-07-20 00:00:00
abstract：BACKGROUND:Japanese Black cattle are a beef breed whose meat is well known to excel in meat quality, especially in marbling, and whose effective population size is relatively low in Japan. Unlike dairy cattle, the accuracy of genomic evaluation (GE) for carcass traits in beef cattle, including this breed, has been poor...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-15-15
更新日期：2014-02-03 00:00:00
abstract：BACKGROUND:Discerning the traits evolving under neutral conditions from those traits evolving rapidly because of various selection pressures is a great challenge. We propose a new method, composite selection signals (CSS), which unifies the multiple pieces of selection evidence from the rank distribution of its diverse...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-15-34
更新日期：2014-03-17 00:00:00
abstract：:A thorough genetic mapping study was performed to identify predisposing genes for alcoholism dependence using the Collaborative Study on the Genetics of Alcoholism (COGA) data. The procedure comprised whole-genome linkage and confirmation analyses, single locus and haplotype fine mapping analyses, and gene x environme...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-6-S1-S30
更新日期：2005-12-30 00:00:00
abstract：BACKGROUND:Despite the emergence of stereotactic body radiotherapy (SBRT) for treatment of medically inoperable early-stage non-small-cell lung cancer patients, the molecular effects of focal exposure of limited lung volumes to high-dose radiation have not been fully characterized. This study was designed to identify m...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-016-0338-9
更新日期：2016-01-27 00:00:00
abstract：BACKGROUND:Stripe rust is a serious fungal disease of wheat (Triticum aestivum L.) caused by Puccinia striiformis f. sp. tritici (Pst), which results in yield reduction and decreased grain quality. Breeding for genetic resistance to stripe rust is the most cost-effective method to control the disease. In the present st...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-019-0736-x
更新日期：2019-03-26 00:00:00
abstract：BACKGROUND:Congenital heart defects (CHD) is the most common cause of death from a congenital structure abnormality in newborns and is often associated with fetal loss. There are many types of CHD. Human genetic studies have identified genes that are responsible for the inheritance of a particular type of CHD and for s...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-14-44
更新日期：2013-05-24 00:00:00
abstract：:Participants in the family-based analysis group at Genetic Analysis Workshop 19 addressed diverse topics, all of which used the family data. Topics addressed included questions of study design and data quality control (QC), genotype imputation to augment available sequence data, and linkage and/or association analyses...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-015-0318-5
更新日期：2016-02-03 00:00:00
abstract：BACKGROUND:The Tnfrh1 gene (gene symbol Tnfrsf23) is located near one end of a megabase-scale imprinted region on mouse distal chromosome 7, about 350 kb distant from the nearest known imprinting control element. Within 20 kb of Tnfrh1 is a related gene called Tnfrh2 (Tnfrsf22) These duplicated genes encode putative de...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-3-11
更新日期：2002-06-27 00:00:00
abstract：BACKGROUND:Boar taint is an unpleasant condition of pork, mainly due to the accumulation of androstenone and skatole in male pigs at onset of puberty. This condition is the cause of considerable economic losses in the pig industry and the most common practice to control it is to castrate male piglets. Because of the ec...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-12-35
更新日期：2011-04-20 00:00:00
abstract：:Only one genome scan to date has attempted to make use of the longitudinal data available in the Framingham Heart Study, and this attempt yielded evidence of linkage to a gene for mean systolic blood pressure. We show how the additional information available in these longitudinal data can be utilized to examine linkag...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-4-S1-S82
更新日期：2003-12-31 00:00:00
abstract：BACKGROUND:The NUP98 gene is involved in multiple rearrangements in haematological malignancy. The leukemic cells in an acute myeloid leukemia (AML) patient with a t(9;11)(p22;p15) were recently shown to have a fusion between the NUP98 gene and the LEDGF gene but it was not demonstrated that this fusion was recurrent i...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-2-20
更新日期：2001-01-01 00:00:00
abstract：BACKGROUND:Non-synonymous polymorphisms within the prion protein gene (PRNP) influence the susceptibility and incubation time for transmissible spongiform encephalopathies (TSE) in some species such as sheep and humans. In cattle, none of the known polymorphisms within the PRNP coding region has a major influence on su...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-8-15
更新日期：2007-04-16 00:00:00
abstract：BACKGROUND:Interleukin-10 and tumor necrosis factor α play an important role in breast carcinogenesis. Genes, encoding those two cytokines, contain single nucleotide polymorphisms, which are associated with differential levels of gene transcription. This study analyzes single nucleotide polymorphisms in interleukin 10 ...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-015-0234-8
更新日期：2015-06-26 00:00:00
abstract：BACKGROUND:Pest eradication using the Sterile Insect Technique (SIT) involves high-density releases of sterilized males that mate with wild females and ultimately suppress the population. Sterilized females are not required for SIT and their removal or separation from males prior to release remains challenging. In orde...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-020-00934-3
更新日期：2020-12-18 00:00:00
abstract：BACKGROUND:Genome-wide association studies involve detecting association between millions of genetic variants and a trait, which typically use univariate regression to test association between each single variant and the phenotype. Alternatively, Lasso penalized regression allows one to jointly model the relationship b...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-017-0533-3
更新日期：2017-07-24 00:00:00
abstract：BACKGROUND:Growth and carcass traits are very important traits for broiler chickens. However, carcass traits can only be measured postmortem. Genomic selection may be a powerful tool for such traits because of its accurate prediction of breeding values of animals without own phenotypic information. This study investiga...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-014-0110-y
更新日期：2014-10-15 00:00:00
abstract：BACKGROUND:Human glycosylase IV is involved in GLUT2 transporter regulation in pancreatic beta cells. A KO of this gene along with a high fat diet in a mice model has been associated with the development of type 2 diabetes (T2D). The aims of this study were to measure and compare the MGAT4A mRNA levels in white blood c...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-8-73
更新日期：2007-10-22 00:00:00
abstract：BACKGROUND:Acipenseriformes is a basal lineage of ray-finned fishes and comprise 27 extant species of sturgeons and paddlefishes. They are characterized by several specific genomic features as broad ploidy variation, high chromosome numbers, presence of numerous microchromosomes and propensity to interspecific hybridiz...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-017-0484-8
更新日期：2017-03-02 00:00:00
abstract：BACKGROUND:Although genome-wide association studies have successfully identified thousands of variants associated to complex traits, these variants only explain a small amount of the entire heritability of the trait. Gene-gene interactions have been proposed as a source to explain a significant percentage of the missin...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-015-0283-z
更新日期：2015-10-24 00:00:00
abstract：:The study of change in intermediate phenotypes over time is important in genetics. In this paper we explore a new approach to phenotype definition in the genetic analysis of longitudinal phenotypes. We utilized data from the longitudinal Framingham Heart Study Family Cohort to investigate the familial aggregation and ...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-4-S1-S12
更新日期：2003-12-31 00:00:00
abstract：BACKGROUND:Genotyping technologies enable us to genotype multiple Single Nucleotide Polymorphisms (SNPs) within selected genes/regions, providing data for haplotype association analysis. While haplotype-based association analysis is powerful for detecting untyped causal alleles in linkage-disequilibrium (LD) with neigh...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-9-90
更新日期：2008-12-22 00:00:00
abstract：BACKGROUND:Linkage disequilibrium (LD) mapping is commonly used to evaluate markers for genome-wide association studies. Most types of LD software focus strictly on LD analysis and visualization, but lack supporting services for genotyping. RESULTS:We developed a freeware called LD2SNPing, which provides a complete pa...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-10-26
更新日期：2009-06-06 00:00:00
abstract：BACKGROUND:The SnRKs (sucrose non-fermenting 1 related protein kinase) are a gene family coding for Ser/Thr protein kinases and play important roles in linking the tolerance and metabolic responses of plants to abiotic stresses. To date, no genome-wide characterization of the sucrose non-ferment 1 related protein kinas...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-017-0506-6
更新日期：2017-05-15 00:00:00
abstract：BACKGROUND:Hip dysplasia remains one of the most serious hereditary diseases occurring in dogs despite long-standing evaluation schemes designed to aid selection for healthy joints. Many researchers have recommended the use of estimated breeding values (EBV) to improve the rate of genetic progress from selection agains...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-14-16
更新日期：2013-03-02 00:00:00
abstract：BACKGROUND:Many QTL have been detected in pigs, but very few of them have been fine-mapped up to the causal mutation. On SSC2, the IGF2-intron3-G3072A mutation has been described as the causative polymorphism for a QTL underlying muscle mass and backfat deposition, but further studies have demonstrated that at least on...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-12-92
更新日期：2011-10-27 00:00:00
abstract：BACKGROUND:Approximately 90% of colorectal cancer (CRC) deaths are caused by tumors ability to migrate into the adjacent tissues and metastase into distant organs. More than 40 genes have been causally linked to the development of CRC but no mutations have been associated with metastasis yet. To identify molecular basi...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-018-0673-0
更新日期：2018-09-19 00:00:00
abstract：BACKGROUND:The monocyte chemoattractant protein 1 (MCP-1) is involved in the recruitment of lymphocytes and monocytes and their migration to sites of injury and cellular immune reactions. In a Ghanaian tuberculosis (TB) case-control study group, associations of the MCP1 -362C and the MCP1 -2581G alleles with resistance...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/1471-2156-12-34
更新日期：2011-04-19 00:00:00
abstract：BACKGROUND:Spotted wilt caused by tomato spotted wilt virus (TSWV) is one of the major peanut (Arachis hypogaea L.) diseases in the southeastern United States. Occurrence, severity, and symptoms of spotted wilt disease are highly variable from season to season, making it difficult to efficiently evaluate breeding popul...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-016-0435-9
更新日期：2016-09-06 00:00:00
abstract：BACKGROUND:Cymbidium is a genus of 68 species in the orchid family, with extremely high ornamental value. Marker-assisted selection has proven to be an effective strategy in accelerating plant breeding for many plant species. Analysis of cymbidiums genetic background by molecular markers can be of great value in assist...
journal_title：BMC genetics
pub_type： 杂志文章
doi：10.1186/s12863-014-0124-5
更新日期：2014-12-05 00:00:00
