Characterization of the chromosomal inversion associated with the Koa mutation in the mouse revealed the cause of skeletal abnormalities.

Abstract:

BACKGROUND:Koala (Koa) is a dominant mutation in mice causing bushy muzzle and pinna, and is associated with a chromosomal inversion on the distal half of chromosome 15. To identify the gene responsible for the Koa phenotypes, we investigated phenotypes of Koa homozygous mice and determined the breakpoints of the inversion with a genetic method using recombination between two different chromosomal inversions. RESULTS:Skeletal preparation of Koa homozygotes showed marked deformity of the ribs and a wider skull with extended zygomatic arches, in addition to a general reduction in the lengths of long bones. They also had open eyelids at birth caused by a defect in the extension of eyelid anlagen during the embryonic stages. The proximal and distal breakpoints of the Koa inversion were determined to be 0.8-Mb distal to the Trsps1 gene and to 0.1-Mb distal to the Hoxc4 gene, respectively, as previously reported. The phenotypes of mice with the recombinant inverted chromosomes revealed the localization of the gene responsible the Koa phenotype in the vicinity of the proximal recombinant breakpoint. Expression of the Trsps1 gene in this region was significantly reduced in the Koa homozygous and heterozygous embryos. CONCLUSION:While no gene was disrupted by the chromosomal inversion, an association between the Koa phenotype and the proximal recombinant breakpoint, phenotypic similarities with Trps1-deficient mice or human patients with TRSP1 mutations, and the reduced expression of the Trsps1 gene in Koa mice, indicated that the phenotypes of the Koa mice are caused by the altered expression of the Trps1 gene.

journal_name

BMC Genet

journal_title

BMC genetics

authors

Katayama K,Miyamoto S,Furuno A,Akiyama K,Takahashi S,Suzuki H,Tsuji T,Kunieda T

doi

10.1186/1471-2156-10-60

subject

Has Abstract

pub_date

2009-09-22 00:00:00

pages

60

issn

1471-2156

pii

1471-2156-10-60

journal_volume

10

pub_type

杂志文章
  • Polymorphisms of two loci at the oxytocin receptor gene in populations of Africa, Asia and South Europe.

    abstract:BACKGROUND:The oxytocin (OT) system is known to be implicated in the regulation of complex social behavior, particularly empathy and parenting. The goal of this study was to estimate the gender and population differences in polymorphisms of two oxytocin receptor gene SNPs, rs53576 and rs2254298, in four populations. R...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-015-0323-8

    authors: Butovskaya PR,Lazebny OE,Sukhodolskaya EM,Vasiliev VA,Dronova DA,Fedenok JN,Rosa A,Peletskaya EN,Ryskov AP,Butovskaya ML

    更新日期:2016-01-06 00:00:00

  • B chromosome in the beetle Coprophanaeus cyanescens (Scarabaeidae): emphasis in the organization of repetitive DNA sequences.

    abstract:BACKGROUND:To contribute to the knowledge of coleopteran cytogenetics, especially with respect to the genomic content of B chromosomes, we analyzed the composition and organization of repetitive DNA sequences in the Coprophanaeus cyanescens karyotype. We used conventional staining and the application of fluorescence in...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-13-96

    authors: Gomes de Oliveira S,Cassia de Moura R,Martins C

    更新日期:2012-11-06 00:00:00

  • The distal end of porcine chromosome 6p is involved in the regulation of skatole levels in boars.

    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

    authors: Ramos AM,Duijvesteijn N,Knol EF,Merks JW,Bovenhuis H,Crooijmans RP,Groenen MA,Harlizius B

    更新日期:2011-04-20 00:00:00

  • The missense mutation in Abcg5 gene in spontaneously hypertensive rats (SHR) segregates with phytosterolemia but not hypertension.

    abstract:BACKGROUND:Sitosterolemia is a recessively inherited disorder in humans that is associated with premature atherosclerotic disease. Mutations in ABCG5 or ABCG8, comprising the sitosterolemia locus, STSL, are now known to cause this disease. Three in-bred strains of rats, WKY, SHR and SHRSP, are known to be sitosterolemi...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-40

    authors: Chen J,Batta A,Zheng S,Fitzgibbon WR,Ullian ME,Yu H,Tso P,Salen G,Patel SB

    更新日期:2005-07-18 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

  • Accuracy of genomic prediction for growth and carcass traits in Chinese triple-yellow chickens.

    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

    authors: Liu T,Qu H,Luo C,Shu D,Wang J,Lund MS,Su G

    更新日期:2014-10-15 00:00:00

  • Comparison of multimarker logistic regression models, with application to a genomewide scan of schizophrenia.

    abstract:BACKGROUND:Genome-wide association studies (GWAS) are a widely used study design for detecting genetic causes of complex diseases. Current studies provide good coverage of common causal SNPs, but not rare ones. A popular method to detect rare causal variants is haplotype testing. A disadvantage of this approach is that...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-11-80

    authors: Wason JM,Dudbridge F

    更新日期:2010-09-09 00:00:00

  • Clustering by genetic ancestry using genome-wide SNP data.

    abstract:BACKGROUND:Population stratification can cause spurious associations in a genome-wide association study (GWAS), and occurs when differences in allele frequencies of single nucleotide polymorphisms (SNPs) are due to ancestral differences between cases and controls rather than the trait of interest. Principal components ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-11-108

    authors: Solovieff N,Hartley SW,Baldwin CT,Perls TT,Steinberg MH,Sebastiani P

    更新日期:2010-12-09 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

  • Genome-wide linkage scan for genes affecting longitudinal trends in systolic blood pressure.

    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

    authors: Jacobs KB,Gray-McGuire C,Cartier KC,Elston RC

    更新日期:2003-12-31 00:00:00

  • Characterization of molecular diversity and genome-wide association study of stripe rust resistance at the adult plant stage in Northern Chinese wheat landraces.

    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

    authors: Yao F,Zhang X,Ye X,Li J,Long L,Yu C,Li J,Wang Y,Wu Y,Wang J,Jiang Q,Li W,Ma J,Wei Y,Zheng Y,Chen G

    更新日期:2019-03-26 00:00:00

  • Whole genome population genetics analysis of Sudanese goats identifies regions harboring genes associated with major traits.

    abstract:BACKGROUND:Sudan is endowed with a variety of indigenous goat breeds which are used for meat and milk production and which are well adapted to the local environment. The aim of the present study was to determine the genetic diversity and relationship within and between the four main Sudanese breeds of Nubian, Desert, T...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-017-0553-z

    authors: Rahmatalla SA,Arends D,Reissmann M,Said Ahmed A,Wimmers K,Reyer H,Brockmann GA

    更新日期:2017-10-23 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

  • A genome-wide scanning and fine mapping study of COGA data.

    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

    authors: Yang HC,Chang CC,Lin CY,Chen CL,Lin CY,Fann CS

    更新日期:2005-12-30 00:00:00

  • Evidence for bivariate linkage of obesity and HDL-C levels in the Framingham Heart Study.

    abstract:BACKGROUND:Epidemiological studies have indicated that obesity and low high-density lipoprotein (HDL) levels are strong cardiovascular risk factors, and that these traits are inversely correlated. Despite the belief that these traits are correlated in part due to pleiotropy, knowledge on specific genes commonly affecti...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-4-S1-S52

    authors: Arya R,Lehman D,Hunt KJ,Schneider J,Almasy L,Blangero J,Stern MP,Duggirala R,Framingham Heart Study.

    更新日期:2003-12-31 00:00:00

  • Puccinia triticina pathotypes THTT and THTS display complex transcript profiles on wheat cultivar Thatcher.

    abstract:BACKGROUND:Wheat leaf rust is an important disease worldwide. Understanding the pathogenic molecular mechanism of Puccinia triticina Eriks. (Pt) and the inconstant toxic region is critical for managing the disease. The present study aimed to analyze the pathogenic divergence between Pt isolates. RESULTS:Total RNA was ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-020-00851-5

    authors: Wei J,Cui L,Zhang N,Du D,Meng Q,Yan H,Liu D,Yang W

    更新日期:2020-04-28 00:00:00

  • The effects of the DNA Demethylating reagent, 5-azacytidine on SMCHD1 genomic localization.

    abstract:BACKGROUND:DNA methylation is an epigenetic modification that mainly repress expression of genes essential during embryogenesis and development. There are key ATPase-dependent enzymes that read or write DNA methylation to remodel chromatin and regulate gene expression. Structural maintenance of chromosome hinge domain ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-020-0809-x

    authors: Massah S,Jubene J,Lee FJS,Beischlag TV,Prefontaine GG

    更新日期:2020-01-15 00:00:00

  • Power and sample size calculations in the presence of phenotype errors for case/control genetic association studies.

    abstract:BACKGROUND:Phenotype error causes reduction in power to detect genetic association. We present a quantification of phenotype error, also known as diagnostic error, on power and sample size calculations for case-control genetic association studies between a marker locus and a disease phenotype. We consider the classic P...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-18

    authors: Edwards BJ,Haynes C,Levenstien MA,Finch SJ,Gordon D

    更新日期:2005-04-08 00:00:00

  • Genome-wide association study of Gossypium arboreum resistance to reniform nematode.

    abstract:BACKGROUND:Reniform nematode (Rotylenchulus reniformis) has emerged as one of the most destructive root pathogens of upland cotton (Gossypium hirsutum) in the United States. Management of R. reniformis has been hindered by the lack of resistant G. hirsutum cultivars; however, resistance has been frequently identified i...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-018-0662-3

    authors: Li R,Erpelding JE,Stetina SR

    更新日期:2018-08-03 00:00:00

  • MTH1 and RGT1 demonstrate combined haploinsufficiency in regulation of the hexose transporter genes in Saccharomyces cerevisiae.

    abstract:BACKGROUND:The SNF3 gene in the yeast Saccharomyces cerevisiae encodes a low glucose sensor that regulates expression of an important subset of the hexose transporter (HXT) superfamily. Null mutations of snf3 result in a defect in growth on low glucose concentrations due to the inability to relieve repression of a subs...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-13-107

    authors: Dietzel KL,Ramakrishnan V,Murphy EE,Bisson LF

    更新日期:2012-12-12 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

  • A quantitative linkage score for an association study following a linkage analysis.

    abstract:BACKGROUND:Currently, a commonly used strategy for mapping complex quantitative traits is to use a genome-wide linkage analysis to narrow suspected genes to regions on a scale of centiMorgans (cM), followed by an association analysis to fine map the genetic variation in regions showing linkage. Two important questions ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-7-5

    authors: Wang T,Elston RC

    更新日期:2006-01-20 00:00:00

  • Including endophenotypes as covariates in variance component heritability and linkage analysis.

    abstract::The purpose of these analyses was to determine if incorporating or adjusting for covariates in genetic analyses helped or hindered in genetic analyses, specifically heritability and linkage analyses. To study this question, two types of covariate models were used in the simulated Genetic Analysis Workshop 14 dataset i...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-S1-S49

    authors: Bailey JN

    更新日期:2005-12-30 00:00:00

  • Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.

    abstract:BACKGROUND:DGAT2 is a promising candidate gene for obesity because of its function as a key enzyme in fat metabolism and because of its localization on chromosome 11q13, a linkage region for extreme early onset obesity detected in our sample. We performed a mutation screen in 93 extremely obese children and adolescents...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-8-17

    authors: Friedel S,Reichwald K,Scherag A,Brumm H,Wermter AK,Fries HR,Koberwitz K,Wabitsch M,Meitinger T,Platzer M,Biebermann H,Hinney A,Hebebrand J

    更新日期:2007-05-03 00:00:00

  • Comparison of the accuracy of methods of computational haplotype inference using a large empirical dataset.

    abstract:BACKGROUND:Analyses of genetic data at the level of haplotypes provide increased accuracy and power to infer genotype-phenotype correlations and evolutionary history of a locus. However, empirical determination of haplotypes is expensive and laborious. Therefore, several methods of inferring haplotypes from unphased ge...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-5-22

    authors: Adkins RM

    更新日期:2004-08-03 00:00:00

  • Fusion of the NUP98 gene with the LEDGF/p52 gene defines a recurrent acute myeloid leukemia translocation.

    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

    authors: Hussey DJ,Moore S,Nicola M,Dobrovic A

    更新日期:2001-01-01 00:00:00

  • 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

  • Association mapping for morphological and physiological traits in Populus simonii.

    abstract:BACKGROUND:To optimize marker-assisted selection programs, knowledge of the genetic architecture of phenotypic traits is very important for breeders. Generally, most phenotypes, e.g. morphological and physiological traits, are quantitatively inherited, and thus detection of the genes underlying variation for these trai...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-15-S1-S3

    authors: Wei Z,Zhang G,Du Q,Zhang J,Li B,Zhang D

    更新日期:2014-01-01 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

  • qDTY₁.₁, a major QTL for rice grain yield under reproductive-stage drought stress with a consistent effect in multiple elite genetic backgrounds.

    abstract:BACKGROUND:Drought is one of the most important abiotic stresses causing drastic reductions in yield in rainfed rice environments. The suitability of grain yield (GY) under drought as a selection criterion has been reported in the past few years. Most of the quantitative trait loci (QTLs) for GY under drought in rice r...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-12-89

    authors: Vikram P,Swamy BP,Dixit S,Ahmed HU,Teresa Sta Cruz M,Singh AK,Kumar A

    更新日期:2011-10-18 00:00:00