Abstract:
BACKGROUND:Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe neurologic and ophthalmologic abnormalities. Recently the MLIV gene, MCOLN1, has been identified as a new member of the transient receptor potential (TRP) cation channel superfamily. Here we report the cloning and characterization of the mouse homologue, Mcoln1, and report a novel splice variant that is not seen in humans. RESULTS:The human and mouse genes display a high degree of synteny. Mcoln1 shows 91% amino acid and 86% nucleotide identity to MCOLN1. Also, Mcoln1 maps to chromosome 8 and contains an open reading frame of 580 amino acids, with a transcript length of approximately 2 kb encoded by 14 exons, similar to its human counterpart. The transcript that results from murine specific alternative splicing encodes a 611 amino acid protein that differs at the c-terminus. CONCLUSIONS:Mcoln1 is highly similar to MCOLN1, especially in the transmembrane domains and ion pore region. Also, the late endosomal/lysosomal targeting signal is conserved, supporting the hypothesis that the protein is localized to these vesicle membranes. To date, there are very few reports describing species-specific splice variants. While identification of Mcoln1 is crucial to the development of mouse models for MLIV, the fact that there are two transcripts in mice suggests an additional or alternate function of the gene that may complicate phenotypic assessment.
journal_name
BMC Genomicsjournal_title
BMC genomicsauthors
Falardeau JL,Kennedy JC,Acierno JS Jr,Sun M,Stahl S,Goldin E,Slaugenhaupt SAdoi
10.1186/1471-2164-3-3keywords:
subject
Has Abstractpub_date
2002-01-01 00:00:00pages
3issn
1471-2164journal_volume
3pub_type
杂志文章相关文献
BMC GENOMICS文献大全abstract:UNLABELLED:Little is known, either experimentally or computationally, about the genomic sequence features that regulate malaria genes. A sequence conservation analysis of the malaria species P. falciparum, P. berghei, P. yoelii, and P. chabaudi could significantly advance knowledge of malaria gene regulation. RESULTS:...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-8-372
更新日期:2007-10-15 00:00:00
abstract:BACKGROUND:Our previous study had proved that nigericin could reduce colorectal cancer cell proliferation in dose- and time-dependent manners by targeting Wnt/β-catenin signaling. To better elucidate its potential anti-cancer mechanism, two pancreatic cancer (PC) cell lines were exposed to increasing concentrations of ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-019-6032-3
更新日期:2019-09-18 00:00:00
abstract:BACKGROUND:Hop (Humulus lupulus L.) is an economically important plant forming organogenic nodules which can be used for genetic transformation and micropropagation. We are interested in the mechanisms underlying reprogramming of cells through stress and hormone treatments. RESULTS:An integrated molecular and metabolo...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-9-445
更新日期:2008-09-29 00:00:00
abstract:BACKGROUND:Increasing evidence suggests that overlapping genes are much more common in eukaryotic genomes than previously thought. In this study we identified and characterized the overlapping genes in a set of 13,484 pairs of human-mouse orthologous genes. RESULTS:About 10% of the genes under study are overlapping ge...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-9-169
更新日期:2008-04-14 00:00:00
abstract:BACKGROUND:Homologous recombination is the key process that generates genetic diversity and drives evolution. SPO11 protein triggers recombination by introducing DNA double stranded breaks at discreet areas of the genome called recombination hotspots. The hotspot locations are largely determined by the DNA binding spec...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-14-493
更新日期:2013-07-22 00:00:00
abstract:BACKGROUND:Current technologies in next-generation sequencing are offering high throughput reads at low costs, but still suffer from various sequencing errors. Although pyro- and ion semiconductor sequencing both have the advantage of delivering long and high quality reads, problems might occur when sequencing homopoly...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-018-4544-x
更新日期:2018-02-21 00:00:00
abstract:BACKGROUND:Phenylalanine ammonia lyase (PAL) is a key enzyme of the phenylpropanoid pathway that catalyzes the deamination of phenylalanine to trans-cinnamic acid, a precursor for the lignin and flavonoid biosynthetic pathways. To date, PAL genes have been less extensively studied in gymnosperms than in angiosperms. Ou...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-13-S3-S1
更新日期:2012-06-11 00:00:00
abstract:BACKGROUND:Toxigenic Vibrio cholerae serogroup O1 is the causative pathogen in the sixth and seventh cholera pandemics. Cholera toxin is the major virulent factor but other virulence and virulence-related factors play certain roles in the pathogenesis and survival in the host. Along with the evolution of the epidemic s...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-019-5725-y
更新日期:2019-05-09 00:00:00
abstract:BACKGROUND:The diversity of placental architectures within and among mammalian orders is believed to be the result of adaptive evolution. Although, the genetic basis for these differences is unknown, some may arise from rapidly diverging and lineage-specific genes. Previously, we identified 91 novel lineage-specific tr...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-11-161
更新日期:2010-03-09 00:00:00
abstract:BACKGROUND:Burkholderia cenocepacia is an opportunistic pathogen causing life-threatening infections in patients with cystic fibrosis. The bacterium survives within macrophages by interfering with endocytic trafficking and delaying the maturation of the B. cenocepacia-containing phagosome. We hypothesize that B. cenoce...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-13-63
更新日期:2012-02-09 00:00:00
abstract:BACKGROUND:Whole exome sequencing studies identify hundreds to thousands of rare protein coding variants of ambiguous significance for human health. Computational tools are needed to accelerate the identification of specific variants and genes that contribute to human disease. RESULTS:We have developed the Variant Eff...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-14-S3-S3
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Understanding the evolution of the vertebrate pancreas is key to understanding its functions. The chondrichthyes (cartilaginous fish such as sharks and rays) have often been suggested to possess the most ancient example of a distinct pancreas with both hormonal (endocrine) and digestive (exocrine) roles. The...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-1074
更新日期:2014-12-06 00:00:00
abstract:BACKGROUND:Phenomena such as incomplete lineage sorting, horizontal gene transfer, gene duplication and subsequent sub- and neo-functionalisation can result in distinct local phylogenetic relationships that are discordant with species phylogeny. In order to assess the possible biological roles for these subdivisions, t...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-14-347
更新日期:2013-05-24 00:00:00
abstract:BACKGROUND:Repetitive DNA is a major component of plant genomes and is thought to be a driver of evolutionary novelty. Describing variation in repeat content among individuals and between populations is key to elucidating the evolutionary significance of repetitive DNA. However, the cost of producing references genomes...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-020-6517-0
更新日期:2020-01-30 00:00:00
abstract:BACKGROUND:Meiotic recombination is a fundamental evolutionary process. It not only generates diversity, but influences the efficacy of natural selection and genome evolution. There can be significant heterogeneity in recombination rates within and between species, however this variation is not well understood outside ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-016-2884-y
更新日期:2016-08-09 00:00:00
abstract:BACKGROUND:The main limitations in the analysis of viral metagenomes are perhaps the high genetic variability and the lack of information in extant databases. To address these issues, several bioinformatic tools have been specifically designed or adapted for metagenomics by improving read assembly and creating more sen...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-37
更新日期:2014-01-18 00:00:00
abstract:BACKGROUND:The transformation of a developing epithelium into an adult structure is a complex process, which often involves coordinated changes in cell proliferation, metabolism, adhesion, and shape. To identify genetic mechanisms that control epithelial differentiation, we analyzed the temporal patterns of gene expres...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-13-498
更新日期:2012-09-20 00:00:00
abstract:BACKGROUND:The response of the trout, O. mykiss, head kidney to bacterial lipopolysaccharide (LPS) or active and attenuated infectious hematopoietic necrosis virus (IHNV and attINHV respectively) intraperitoneal challenge, 24 and 72 hours post-injection, was investigated using a salmonid-specific cDNA microarray. RESU...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-9-141
更新日期:2008-03-26 00:00:00
abstract:BACKGROUND:Variation in gene expression between two Drosophila melanogaster strains, as revealed by transcriptional profiling, seldom corresponded to variation in proximal promoter sequence for 34 genes analyzed. Two sets of protein-coding genes were selected from pre-existing microarray data: (1) those whose expressio...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-6-110
更新日期:2005-08-17 00:00:00
abstract:BACKGROUND:Defensins are important components of innate immunity to combat bacterial and viral infections, and can even elicit antitumor responses. Clusters of defensin (DEF) genes are located in a 2 Mb range of the human chromosome 8p23.1. This DEF locus, however, represents one of the regions in the euchromatic part ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-5-92
更新日期:2004-12-10 00:00:00
abstract:BACKGROUND:Pekin duck products have become popular in Asia over recent decades and account for an increasing market share. However, the genetic mechanisms affecting carcass growth in Pekin ducks remain unknown. This study aimed to identify quantitative trait loci affecting body size and carcass yields in Pekin ducks. ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-018-5379-1
更新日期:2019-01-03 00:00:00
abstract:BACKGROUND:We have previously reported on paucity of mitochondrial DNA (mtDNA) haplogroups J and K among Finnish endurance athletes. Here we aimed to further explore differences in mtDNA variants between elite endurance and sprint athletes. For this purpose, we determined the rate of functional variants and the mutatio...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-019-6171-6
更新日期:2019-10-29 00:00:00
abstract:BACKGROUND:Natural accessions of Arabidopsis thaliana are characterized by a high level of phenotypic variation that can be used to investigate the extent and mode of selection on the primary metabolic traits. A collection of 54 A. thaliana natural accession-derived lines were subjected to deep genotyping through Singl...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-11-188
更新日期:2010-03-20 00:00:00
abstract:BACKGROUND:The sequencing of the cow genome was recently published (Btau_4.0 assembly). A second, alternate cow genome assembly (UMD2), based on the same raw sequence data, was also published. The two assemblies have been subsequently updated to Btau_4.2 and UMD3.1, respectively. RESULTS:We compared the Btau_4.2 and U...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-12-639
更新日期:2011-12-30 00:00:00
abstract:BACKGROUND:The emergence of epithelia was the foundation of metazoan expansion. Epithelial tissues are a hallmark of metazoans deeply rooted in the evolution of their complex developmental morphogenesis processes. However, studies on the epithelial features of non-bilaterians are still sparse and it remains unclear whe...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-018-4715-9
更新日期:2018-05-24 00:00:00
abstract:BACKGROUND:Polyploidy is an important phenomenon in plants because of its roles in agricultural and forestry production as well as in plant tolerance to environmental stresses. Tetraploid black locust (Robinia pseudoacacia L.) is a polyploid plant and a pioneer tree species due to its wide ranging adaptability to adver...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-017-4038-2
更新日期:2017-08-22 00:00:00
abstract:BACKGROUND:MicroRNAs (miRNAs) are post-transcriptional regulators of mRNA expression and are involved in numerous cellular processes. Consequently, miRNAs are an important component of gene regulatory networks and an improved understanding of miRNAs will further our knowledge of these networks. There is a many-to-many ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-12-138
更新日期:2011-03-06 00:00:00
abstract:BACKGROUND:Venomous animals incapacitate their prey using complex venoms that can contain hundreds of unique protein toxins. The realisation that many of these toxins may have pharmaceutical and insecticidal potential due to their remarkable potency and selectivity against target receptors has led to an explosion in th...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-10-375
更新日期:2009-08-13 00:00:00
abstract:BACKGROUND:Aging is affected by genetic and environmental factors, and cigarette smoking is strongly associated with accumulation of senescent cells. In this study, we wanted to identify genes that may potentially be beneficial for cell survival in response to cigarette smoke and thereby may contribute to development o...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-018-5409-z
更新日期:2019-01-09 00:00:00
abstract:BACKGROUND:The incidence of congenital heart disease (CHD) is continuously increasing among infants born alive nowadays, making it one of the leading causes of infant morbidity worldwide. Various studies suggest that both genetic and environmental factors lead to CHD, and therefore identifying its candidate genes and d...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-12-592
更新日期:2011-12-02 00:00:00