GpnmbR150X allele must be present in bone marrow derived cells to mediate DBA/2J glaucoma.

Abstract:

BACKGROUND:The Gpnmb gene encodes a transmembrane protein whose function(s) remain largely unknown. Here, we assess if a mutant allele of Gpnmb confers susceptibility to glaucoma by altering immune functions. DBA/2J mice have a mutant Gpnmb gene and they develop a form of glaucoma preceded by a pigment dispersing iris disease and abnormalities of the immunosuppressive ocular microenvironment. RESULTS:We find that the Gpnmb genotype of bone-marrow derived cell lineages significantly influences the iris disease and the elevation of intraocular pressure. GPNMB localizes to multiple cell types, including pigment producing cells, bone marrow derived F4/80 positive antigen-presenting cells (APCs) of the iris and dendritic cells. We show that APCs of DBA/2J mice fail to induce antigen induced immune deviation (a form of tolerance) when treated with TGFbeta2. This demonstrates that some of the immune abnormalities previously identified in DBA/2J mice result from intrinsic defects in APCs. However, the tested APC defects are not dependent on a mutant Gpnmb gene. Finally, we show that the Gpnmb mediated iris disease does not require elevated IL18 or mature B or T lymphocytes. CONCLUSION:These results establish a role for Gpnmb in bone marrow derived lineages. They suggest that affects of Gpnmb on innate immunity influence susceptibility to glaucoma in DBA/2J mice.

journal_name

BMC Genet

journal_title

BMC genetics

authors

Anderson MG,Nair KS,Amonoo LA,Mehalow A,Trantow CM,Masli S,John SW

doi

10.1186/1471-2156-9-30

subject

Has Abstract

pub_date

2008-04-10 00:00:00

pages

30

issn

1471-2156

pii

1471-2156-9-30

journal_volume

9

pub_type

杂志文章
  • On different approximations to multilocus identity-by-descent calculations and the resulting power of variance component-based linkage analysis.

    abstract::An empirical comparison between three different methods for estimation of pair-wise identity-by-descent (IBD) sharing at marker loci was conducted in order to quantify the resulting differences in power and localization precision in variance components-based linkage analysis. On the examined simulated, error-free data...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-4-S1-S72

    authors: Göring HH,Williams JT,Dyer TD,Blangero J

    更新日期:2003-12-31 00:00:00

  • Genome-wide association and systems genetic analyses of residual feed intake, daily feed consumption, backfat and weight gain in pigs.

    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

    authors: Do DN,Ostersen T,Strathe AB,Mark T,Jensen J,Kadarmideen HN

    更新日期:2014-02-17 00:00:00

  • Comparative analyses of genetic trends and prospects for selection against hip and elbow dysplasia in 15 UK dog breeds.

    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

    authors: Lewis TW,Blott SC,Woolliams JA

    更新日期:2013-03-02 00:00:00

  • Genome-wide linkage analysis of longitudinal phenotypes using sigma2A random effects (SSARs) fitted by Gibbs sampling.

    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

    authors: Palmer LJ,Scurrah KJ,Tobin M,Patel SR,Celedon JC,Burton PR,Weiss ST

    更新日期:2003-12-31 00:00:00

  • The challenge for genetic epidemiologists: how to analyze large numbers of SNPs in relation to complex diseases.

    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

    authors: Heidema AG,Boer JM,Nagelkerke N,Mariman EC,van der A DL,Feskens EJ

    更新日期:2006-04-21 00:00:00

  • The prognostic value of IL10 and TNF alpha functional polymorphisms in premenopausal early-stage breast cancer patients.

    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

    authors: Korobeinikova E,Myrzaliyeva D,Ugenskiene R,Raulinaityte D,Gedminaite J,Smigelskas K,Juozaityte E

    更新日期:2015-06-26 00:00:00

  • Evaluation of linkage disequilibrium and its effect on non-parametric multipoint linkage analysis using two high density single-nucleotide polymorphism mapping panels.

    abstract::Genotype data from the Illumina Linkage III SNP panel (n = 4,720 SNPs) and the Affymetrix 10 k mapping array (n = 11,120 SNPs) were used to test the effects of linkage disequilibrium (LD) between SNPs in a linkage analysis in the Collaborative Study on the Genetics of Alcoholism pedigree collection (143 pedigrees; 1,6...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-S1-S85

    authors: Murray SS

    更新日期:2005-12-30 00:00:00

  • Analysis of an independent tumor suppressor locus telomeric to Tp53 suggested Inpp5k and Myo1c as novel tumor suppressor gene candidates in this region.

    abstract:BACKGROUND:Several reports indicate a commonly deleted chromosomal region independent from, and distal to the TP53 locus in a variety of human tumors. In a previous study, we reported a similar finding in a rat tumor model for endometrial carcinoma (EC) and through developing a deletion map, narrowed the candidate regi...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-015-0238-4

    authors: Hedberg Oldfors C,Dios DG,Linder A,Visuttijai K,Samuelson E,Karlsson S,Nilsson S,Behboudi A

    更新日期:2015-07-14 00:00:00

  • Focal exposure of limited lung volumes to high-dose irradiation down-regulated organ development-related functions and up-regulated the immune response in mouse pulmonary tissues.

    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

    authors: Kim BY,Jin H,Lee YJ,Kang GY,Cho J,Lee YS

    更新日期:2016-01-27 00:00:00

  • Towards systems genetic analyses in barley: Integration of phenotypic, expression and genotype data into GeneNetwork.

    abstract:BACKGROUND:A typical genetical genomics experiment results in four separate data sets; genotype, gene expression, higher-order phenotypic data and metadata that describe the protocols, processing and the array platform. Used in concert, these data sets provide the opportunity to perform genetic analysis at a systems le...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-9-73

    authors: Druka A,Druka I,Centeno AG,Li H,Sun Z,Thomas WT,Bonar N,Steffenson BJ,Ullrich SE,Kleinhofs A,Wise RP,Close TJ,Potokina E,Luo Z,Wagner C,Schweizer GF,Marshall DF,Kearsey MJ,Williams RW,Waugh R

    更新日期:2008-11-18 00:00:00

  • The Tnfrh1 (Tnfrsf23) gene is weakly imprinted in several organs and expressed at the trophoblast-decidua interface.

    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

    authors: Clark L,Wei M,Cattoretti G,Mendelsohn C,Tycko B

    更新日期:2002-06-27 00:00:00

  • In silico genome-wide miRNA-QTL-SNPs analyses identify a functional SNP associated with mastitis in Holsteins.

    abstract:BACKGROUND:Single-nucleotide polymorphisms (SNPs) in microRNAs (miRNAs) and their target binding sites affect miRNA function and are involved in biological processes and diseases, including bovine mastitis, a frequent inflammatory disease. Our previous study has shown that bta-miR-2899 is significantly upregulated in t...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-019-0749-5

    authors: Jiang Q,Zhao H,Li R,Zhang Y,Liu Y,Wang J,Wang X,Ju Z,Liu W,Hou M,Huang J

    更新日期:2019-05-16 00:00:00

  • Cytoplasm affects grain weight and filled-grain ratio in indica rice.

    abstract:BACKGROUND:Cytoplasmic effects on agronomic traits--involving cytoplasmic and nuclear genomes of either different species or different cultivars--are well documented in wheat but have seldom been demonstrated in rice (Oryza sativa L.). To detect cytoplasmic effects, we introgressed the nuclear genomes of three indica c...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-12-53

    authors: Tao D,Xu P,Zhou J,Deng X,Li J,Deng W,Yang J,Yang G,Li Q,Hu F

    更新日期:2011-06-01 00:00:00

  • Construction of an integrative regulatory element and variation map of the murine Tst locus.

    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

    authors: Beltram J,Morton NM,Kunej T,Horvat S

    更新日期:2016-06-11 00:00:00

  • Mapping of the transcription start site (TSS) and identification of SNPs in the bovine neuropeptide Y (NPY) gene.

    abstract:BACKGROUND:Neuropeptide Y is a key neurotransmitter of the central nervous system which plays a vital role in the feed energy homeostasis in mammals. Mutations in the regulatory and coding regions of the bovine NPY gene can potentially affect the neuronal regulation of appetite and feeding behaviour in cattle. The obje...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-9-91

    authors: Bahar B,Sweeney T

    更新日期:2008-12-23 00:00:00

  • Genome-wide association analysis of egg production performance in chickens across the whole laying period.

    abstract:BACKGROUND:Egg production is the most economically-important trait in layers as it directly influences benefits of the poultry industry. To better understand the genetic architecture of egg production, we measured traits including age at first egg (AFE), weekly egg number (EN) from onset of laying eggs to 80 weeks whic...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-019-0771-7

    authors: Liu Z,Yang N,Yan Y,Li G,Liu A,Wu G,Sun C

    更新日期:2019-08-14 00:00:00

  • Reassessment of the function of somatolactin alpha in lipid metabolism using medaka mutant and transgenic strains.

    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

    authors: Sasano Y,Yoshimura A,Fukamachi S

    更新日期:2012-07-24 00:00:00

  • Comparative genomic analysis of Atlantic salmon, Salmo salar, from Europe and North America.

    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

    authors: Lubieniecki KP,Jones SL,Davidson EA,Park J,Koop BF,Walker S,Davidson WS

    更新日期:2010-11-23 00:00:00

  • Exome sequencing in one family with gastric- and rectal cancer.

    abstract:BACKGROUND:Heritable factors are well known to increase the risk of cancer in families. Known susceptibility genes account for a small proportion of all colorectal cancer cases. The aim of this study was to identify the genetic background in a family suggested to segregate a dominant cancer syndrome with a high risk of...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-016-0351-z

    authors: Thutkawkorapin J,Picelli S,Kontham V,Liu T,Nilsson D,Lindblom A

    更新日期:2016-02-13 00:00:00

  • Exome scale map of genetic alterations promoting metastasis in colorectal cancer.

    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

    authors: Goryca K,Kulecka M,Paziewska A,Dabrowska M,Grzelak M,Skrzypczak M,Ginalski K,Mroz A,Rutkowski A,Paczkowska K,Mikula M,Ostrowski J

    更新日期:2018-09-19 00:00:00

  • The effect of rare alleles on estimated genomic relationships from whole genome sequence data.

    abstract:BACKGROUND:Relationships between individuals and inbreeding coefficients are commonly used for breeding decisions, but may be affected by the type of data used for their estimation. The proportion of variants with low Minor Allele Frequency (MAF) is larger in whole genome sequence (WGS) data compared to Single Nucleoti...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-015-0185-0

    authors: Eynard SE,Windig JJ,Leroy G,van Binsbergen R,Calus MP

    更新日期:2015-03-12 00:00:00

  • A colorectal cancer prediction model using traditional and genetic risk scores in Koreans.

    abstract:BACKGROUND:Genome-wide association studies have identified numerous single nucleotide polymorphisms (SNPs) as associated with colorectal cancer (CRC) risk in populations of European descent. However, their utility for predicting risk to CRC in Asians remains unknown. A case-cohort study (random sub-cohort N=1,685) from...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-015-0207-y

    authors: Jung KJ,Won D,Jeon C,Kim S,Kim TI,Jee SH,Beaty TH

    更新日期:2015-05-09 00:00:00

  • Genetic structure of the gentle Africanized honey bee population (gAHB) in Puerto Rico.

    abstract:BACKGROUND:The Africanized honey bee is one of the most spectacular invasions in the Americas. African bees escaped from apiaries in Brazil in 1956, spread over Americas and by 1994 they were reported in Puerto Rico. In contrast to other places, the oceanic island conditions in Puerto Rico may mean a single introductio...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-14-65

    authors: Galindo-Cardona A,Acevedo-Gonzalez JP,Rivera-Marchand B,Giray T

    更新日期:2013-08-06 00:00:00

  • The genetic variants in 3' untranslated region of voltage-gated sodium channel alpha 1 subunit gene affect the mRNA-microRNA interactions and associate with epilepsy.

    abstract:BACKGROUND:mRNA expression in a cell or subcellular organelle is precisely regulated for the purpose of gene function regulation. The 3' untranslated region (3'UTR) of mRNA is the binding target of microRNA and RNA binding proteins. Their interactions regulate mRNA level in specific subcellular regions and determine th...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-016-0417-y

    authors: Li T,Kuang Y,Li B

    更新日期:2016-07-29 00:00:00

  • Wild barley introgression lines revealed novel QTL alleles for root and related shoot traits in the cultivated barley (Hordeum vulgare L.).

    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

    authors: Naz AA,Arifuzzaman M,Muzammil S,Pillen K,Léon J

    更新日期:2014-10-07 00:00:00

  • An investigation of the effects of lipid-lowering medications: genome-wide linkage analysis of lipids in the HyperGEN study.

    abstract:BACKGROUND:Use of anti-hyperlipidemic medications compromises genetic analysis because of altered lipid profiles. We propose an empirical method to adjust lipid levels for medication effects so that the adjusted lipid values substitute the unmedicated lipid values in the genetic analysis. RESULTS:Published clinical tr...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-8-60

    authors: Wu J,Province MA,Coon H,Hunt SC,Eckfeldt JH,Arnett DK,Heiss G,Lewis CE,Ellison RC,Rao DC,Rice T,Kraja AT

    更新日期:2007-09-10 00:00:00

  • Association studies including genotype by environment interactions: prospects and limits.

    abstract:BACKGROUND:Association mapping studies offer great promise to identify polymorphisms associated with phenotypes and for understanding the genetic basis of quantitative trait variation. To date, almost all association mapping studies based on structured plant populations examined the main effects of genetic factors on t...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-15-3

    authors: Saïdou AA,Thuillet AC,Couderc M,Mariac C,Vigouroux Y

    更新日期:2014-01-06 00:00:00

  • Genomic characterisation, chromosomal assignment and in vivo localisation of the canine high mobility group A1 (HMGA1) gene.

    abstract:BACKGROUND:The high mobility group A1 proteins (HMGA1a/HMGA1b) are highly conserved between mammalian species and widely described as participating in various cellular processes. By inducing DNA conformation changes the HMGA1 proteins indirectly influence the binding of various transcription factors and therefore effec...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-9-49

    authors: Beuing C,Soller JT,Muth M,Wagner S,Dolf G,Schelling C,Richter A,Willenbrock S,Reimann-Berg N,Winkler S,Nolte I,Bullerdiek J,Murua Escobar H

    更新日期:2008-07-23 00:00:00

  • Methods for mapping and categorization of DNA sequence reads from allopolyploid organisms.

    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

    authors: Page JT,Udall JA

    更新日期:2015-01-01 00:00:00

  • Genome-wide association analyses for carcass quality in crossbred beef cattle.

    abstract:BACKGROUND:Genetic improvement of beef quality will benefit both producers and consumers, and can be achieved by selecting animals that carry desired quantitative trait nucleotides (QTN), which result from intensive searches using genetic markers. This paper presents a genome-wide association approach utilizing single ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-14-80

    authors: Lu D,Sargolzaei M,Kelly M,Vander Voort G,Wang Z,Mandell I,Moore S,Plastow G,Miller SP

    更新日期:2013-09-11 00:00:00