Abstract:
BACKGROUND:Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). A patient showing few of the symptoms associated with the disease, was found to be a compound heterozygote for a splice mutation, IVS6-1g->t, and a putative missense mutation, Q279R. Analysis of FAH expression in liver sections obtained after resection for hepatocellular carcinoma revealed a mosaic pattern of expression. No FAH was found in tumor regions while a healthy region contained enzyme-expressing nodules. RESULTS:Analysis of DNA from a FAH expressing region showed that the expression of the protein was due to correction of the Q279R mutation. RT-PCR was used to assess if Q279R RNA was produced in the liver cells and in fibroblasts from the patient. Normal mRNA was found in the liver region where the mutation had reverted while splicing intermediates were found in non-expressing regions suggesting that the Q279R mutation acted as a splicing mutation in vivo. Sequence of transcripts showed skipping of exon 8 alone or together with exon 9. Using minigenes in transfection assays, the Q279R mutation was shown to induce skipping of exon 9 when placed in a constitutive splicing environment. CONCLUSION:These data suggest that the putative missense mutation Q279R in the FAH gene acts as a splicing mutation in vivo. Moreover FAH expression can be partially restored in certain liver cells as a result of a reversion of the Q279R mutation and expansion of the corrected cells.
journal_name
BMC Genetjournal_title
BMC geneticsauthors
Dreumont N,Poudrier JA,Bergeron A,Levy HL,Baklouti F,Tanguay RMdoi
10.1186/1471-2156-2-9keywords:
subject
Has Abstractpub_date
2001-01-01 00:00:00pages
9issn
1471-2156journal_volume
2pub_type
杂志文章相关文献
BMC GENETICS文献大全abstract:BACKGROUND:Meta-analysis is a popular methodology in several fields of medical research, including genetic association studies. However, the methods used for meta-analysis of association studies that report haplotypes have not been studied in detail. In this work, methods for performing meta-analysis of haplotype assoc...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-12-8
更新日期:2011-01-19 00:00:00
abstract:BACKGROUND:Recent advances in sequencing technologies have allowed for the retrieval of ancient DNA data (aDNA) from skeletal remains, providing direct genetic snapshots from diverse periods of human prehistory. Comparing samples taken in the same region but at different times, hereafter called "serial samples", may in...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-017-0575-6
更新日期:2017-12-15 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:G-protein subunit beta 1 like (GNB1L) encodes a G-protein beta-subunit-like polypeptide. Chicken GNB1L is upregulated in the breast muscle of high feed efficiency chickens, and its expression is 1.52-fold that in low feed efficiency chickens. However, no report has described the effects of GNB1L indels on th...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-020-00900-z
更新日期:2020-08-26 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::The Framingham Heart Study offspring cohort, a complex data set with irregularly spaced longitudinal phenotype data, was made available as part of Genetic Analysis Workshop 13. To allow an analysis of all of the data simultaneously, a mixed-model- based random-regression (RR) approach was used. The RR accounted for th...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-4-S1-S22
更新日期:2003-12-31 00:00:00
abstract:BACKGROUND:Pulmonary arterial hypertension (PAH) is a rare vascular disorder characterized by a capillary wedge pressure ≤ 15 mmHg and a mean pulmonary arterial pressure ≥ 25 mmHg at rest. PAH can be idiopathic, heritable or associated with other conditions. The aim of this study was to analyze the Endoglin (ENG) gene ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-016-0384-3
更新日期:2016-06-04 00:00:00
abstract:BACKGROUND:Feed efficiency is one of the major components determining costs of animal production. Residual feed intake (RFI) is defined as the difference between the observed and the expected feed intake given a certain production. Residual feed intake 1 (RFI1) was calculated based on regression of individual daily fee...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-15-27
更新日期:2014-02-17 00:00:00
abstract:BACKGROUND:The cultivated peanut (Arachis hypogaea L.) is an important oil and food crop in the world. Pod- and kernel-related traits are direct factors involved in determining the yield of the peanut. However, the genetic basis underlying pod- and kernel-related traits in the peanut remained largely unknown, which ham...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-016-0337-x
更新日期:2016-01-25 00:00:00
abstract:BACKGROUND:Somatolactin alpha (SLa) is a fish-specific peptide hormone secreted from the pituitary. In medaka, SLa functions to darken the skin color and lack of SLa makes it pale. Transcription of SLa is enhanced or suppressed when fish are kept in dark or bright conditions, respectively, indicating SLa's important ro...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-13-64
更新日期:2012-07-24 00:00:00
abstract:BACKGROUND:Root is the prime organ that sucks water and nutrients from deep layer of soil. Wild barley diversity exhibits remarkable variation in root system architecture that seems crucial in its adaptation to abiotic stresses like drought. In the present study, we performed quantitative trait locus (QTL) mapping of r...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-014-0107-6
更新日期:2014-10-07 00:00:00
abstract:BACKGROUND:Genome-wide investigation of molecular mechanisms for high-altitude adaptation has attracted great attention in the last few years. In order to understand the contribution of gene expression level variations to high-altitude adaptation in Asiatic toads (Bufo gargarizans), we implemented a reciprocal transpla...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-017-0529-z
更新日期:2017-07-03 00:00:00
abstract:BACKGROUND:Several lines of evidence including allozyme analysis, restriction digest patterns and sequencing of mtDNA as well as mini- and micro-satellite allele frequencies indicate that Atlantic salmon (Salmo salar) from North America and Europe are genetically distinct. These observations are supported by karyotype ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-11-105
更新日期:2010-11-23 00:00:00
abstract::The Framingham Heart Study provides a unique source of longitudinal family data related to CVD risk factors. Age-stratified heritability estimates were obtained over three age groups (31-49 years, 50-60 years, and 61-79 years), reflecting the longitudinal nature of the data, for four quantitative traits. Age-adjusted ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-4-S1-S32
更新日期:2003-12-31 00:00:00
abstract:BACKGROUND:Fenofibrate (Fb) is a known treatment for elevated triglyceride (TG) levels. The Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) study was designed to investigate potential contributors to the effects of Fb on TG levels. Here, we summarize the analyses of 8 papers whose authors had access to the GO...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-018-0652-5
更新日期:2018-09-17 00:00:00
abstract::We compare and contrast the performance of SIMPLE, a Monte Carlo based software, with that of several other methods for linkage and haplotype analyses, focusing on the simulated data from the New York City population. First, a whole-genome scan study based on the microsatellite markers was performed using GENEHUNTER. ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-S1-S76
更新日期:2005-12-30 00:00:00
abstract:BACKGROUND:Field pea (Pisum sativum L.) is among the prominent crops in the world as food and feed. There are relatively few simple sequence repeat (SSR) markers developed from expressed sequence tags (ESTs) in P. sativum. RESULTS:In the present study, 15 new EST-SSR markers were developed from publicly available ESTs...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-015-0261-5
更新日期:2015-08-19 00:00:00
abstract:BACKGROUND:Given the abundance of new genomic projects and gene annotations, researchers trying to pinpoint causal genetic variants are faced with a challenging task of how to efficiently integrate all current genomic information. The objective of the study was to develop an approach to integrate various genomic annota...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-016-0381-6
更新日期:2016-06-11 00:00:00
abstract:BACKGROUND:Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species. RESULTS:Clinical e...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-13-62
更新日期:2012-07-20 00:00:00
abstract::A simple multipoint procedure to test for parent-of-origin effects in samples of affected siblings is discussed. The procedure consists of artificially changing all full sibs to half-sibs, with distinct mothers or fathers depending on the parental origin to be evaluated, then analyzing these families with commonly use...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-6-S1-S159
更新日期:2005-12-30 00:00:00
abstract:BACKGROUND:Grain zinc and iron concentration is a complex trait that is controlled by quantitative trait loci (QTL) and is important for maintaining body health. Despite the substantial effort that has been put into identifying QTL for grain zinc and iron concentration, the integration of independent QTL is useful for ...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-015-0176-1
更新日期:2015-02-14 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:Adaption to cold temperatures, especially those below freezing, is essential for animal survival in cold environments. Freezing is also used for many medical, scientific, and industrial purposes. Natural freezing survival in animals has been extensively studied. However, the underlying mechanisms remain uncl...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-015-0298-5
更新日期:2015-12-03 00:00:00
abstract::Genome read categorization determines the genome of origin for sequence reads from an allopolyploid organism. Different techniques have been used to perform read categorization, mostly based on homoeo-SNPs identified between extant diploid relatives of allopolyploids. We present a novel technique for read categorizati...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-16-S2-S4
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Cattle are bred for, amongst other factors, specific traits, including parasite resistance and adaptation to climate. However, the influence and inheritance of mitochondrial DNA (mtDNA) are not usually considered in breeding programmes. In this study, we analysed the mtDNA profiles of cattle from Victoria (V...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-017-0523-5
更新日期:2017-06-26 00:00:00
abstract::Genetic epidemiologists have taken the challenge to identify genetic polymorphisms involved in the development of diseases. Many have collected data on large numbers of genetic markers but are not familiar with available methods to assess their association with complex diseases. Statistical methods have been developed...
journal_title:BMC genetics
pub_type: 社论
doi:10.1186/1471-2156-7-23
更新日期:2006-04-21 00:00:00
abstract:BACKGROUND:Cell motility is an essential feature of the pathogenesis and morbidity of amoebiasis caused by Entamoeba histolytica. As motility depends on cytoskeletal organisation and regulation, a study of the molecular components involved is key to a better understanding of amoebic pathogenesis. However, little is kno...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-8-28
更新日期:2007-06-06 00:00:00
abstract:BACKGROUND:The plateau pika (Ochotona curzoniae) is an underground-dwelling mammal, native to the Tibetan plateau of China. A set of 10 polymorphic microsatellite loci has been developed earlier. Its reliability for parentage assignment has been tested in a plateau pika population. Two family groups with a known pedigr...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-11-101
更新日期:2010-11-10 00:00:00
abstract:BACKGROUND:Sugar beet is an obligate outcrossing species. Varieties consist of mixtures of plants from various parental combinations. As the number of informative morphological characteristics is limited, this leads to some problems in variety registration research. RESULTS:We have developed 25 new microsatellite mark...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/1471-2156-11-41
更新日期:2010-05-18 00:00:00
abstract:BACKGROUND:Although harness racing is of high economic importance to the global equine industry, significant genomic resources have yet to be applied to mapping harness racing success. To identify genomic regions associated with harness racing success, the current study performs genome-wide association analyses with th...
journal_title:BMC genetics
pub_type: 杂志文章
doi:10.1186/s12863-018-0670-3
更新日期:2018-08-29 00:00:00