Abnormal X: autosome ratio, but normal X chromosome inactivation in human triploid cultures.

Abstract:

BACKGROUND:X chromosome inactivation (XCI) is that aspect of mammalian dosage compensation that brings about equivalence of X-linked gene expression between females and males by inactivating one of the two X chromosomes (Xi) in normal female cells, leaving them with a single active X (Xa) as in male cells. In cells with more than two X's, but a diploid autosomal complement, all X's but one, Xa, are inactivated. This phenomenon is commonly thought to suggest 1) that normal development requires a ratio of one Xa per diploid autosomal set, and 2) that an early event in XCI is the marking of one X to be active, with remaining X's becoming inactivated by default. RESULTS:Triploids provide a test of these ideas because the ratio of one Xa per diploid autosomal set cannot be achieved, yet this abnormal ratio should not necessarily affect the one-Xa choice mechanism for XCI. Previous studies of XCI patterns in murine triploids support the single-Xa model, but human triploids mostly have two-Xa cells, whether they are XXX or XXY. The XCI patterns we observe in fibroblast cultures from different XXX human triploids suggest that the two-Xa pattern of XCI is selected for, and may have resulted from rare segregation errors or Xi reactivation. CONCLUSION:The initial X inactivation pattern in human triploids, therefore, is likely to resemble the pattern that predominates in murine triploids, i.e., a single Xa, with the remaining X's inactive. Furthermore, our studies of XIST RNA accumulation and promoter methylation suggest that the basic features of XCI are normal in triploids despite the abnormal X:autosome ratio.

journal_name

BMC Genet

journal_title

BMC genetics

authors

Gartler SM,Varadarajan KR,Luo P,Norwood TH,Canfield TK,Hansen RS

doi

10.1186/1471-2156-7-41

subject

Has Abstract

pub_date

2006-07-03 00:00:00

pages

41

issn

1471-2156

pii

1471-2156-7-41

journal_volume

7

pub_type

杂志文章
  • P53 codon 72 polymorphism, human papillomavirus infection, and their interaction to oral carcinoma susceptibility.

    abstract:BACKGROUND:Tumor suppressor gene p53 plays an important role in the maintenance of the genomic integrity, and mutation in the gene may alter an individual's susceptibility to various carcinomas. P53 Arg72Pro or codon 72 polymorphism has been indicated to increase the risk of developing certain cancers such as bladder c...

    journal_title:BMC genetics

    pub_type: 杂志文章,meta分析

    doi:10.1186/s12863-015-0235-7

    authors: Hou J,Gu Y,Hou W,Wu S,Lou Y,Yang W,Zhu L,Hu Y,Sun M,Xue H

    更新日期:2015-06-30 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

  • 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

  • Multiple telophase arrest bypassed (tab) mutants alleviate the essential requirement for Cdc15 in exit from mitosis in S. cerevisiae.

    abstract:BACKGROUND:The Mitotic Exit Network (MEN) proteins - including the protein kinase Cdc15 and the protein phosphatase Cdc14 - are essential for exit from mitosis in Saccharomyces cerevisiae. To identify downstream targets of the MEN, we sought telophase arrest bypassed (tab) mutations that bypassed the essential requirem...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-3-4

    authors: Shou W,Deshaies RJ

    更新日期:2002-03-12 00:00:00

  • A second generation genetic map for rainbow trout (Oncorhynchus mykiss).

    abstract:BACKGROUND:Genetic maps characterizing the inheritance patterns of traits and markers have been developed for a wide range of species and used to study questions in biomedicine, agriculture, ecology and evolutionary biology. The status of rainbow trout genetic maps has progressed significantly over the last decade due ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-9-74

    authors: Rexroad CE 3rd,Palti Y,Gahr SA,Vallejo RL

    更新日期:2008-11-19 00:00:00

  • Screening of the arrestin gene in dogs afflicted with generalized progressive retinal atrophy.

    abstract:BACKGROUND:Intronic DNA sequences of the canine arrestin (SAG) gene was screened to identify potential disease causing mutations in dogs with generalized progressive retinal atrophy (gPRA). The intronic sequences flanking each of the 16 exons were obtained from clones of a canine genomic library. RESULTS:Using polymer...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-3-12

    authors: Dekomien G,Epplen JT

    更新日期:2002-07-17 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

  • Correction to: Landraces of snake melon, an ancient Middle Eastern crop, reveal extensive morphological and DNA diversity for potential genetic improvement.

    abstract::Following publication of the original article [1], the authors reported the need for a more detailed acknowledgement of the source of the samples that were analyzed and their coordinates, which are discussed in the 'Methods' section of the article. This Correction provides an addition to the 'Methods' section, and a s...

    journal_title:BMC genetics

    pub_type: 杂志文章,已发布勘误

    doi:10.1186/s12863-018-0632-9

    authors: Omari S,Kamenir Y,Benichou JIC,Pariente S,Sela H,Perl-Treves R

    更新日期:2018-07-12 00:00:00

  • Investigating population continuity with ancient DNA under a spatially explicit simulation framework.

    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

    authors: Silva NM,Rio J,Currat M

    更新日期:2017-12-15 00:00:00

  • Bayesian shrinkage mapping of quantitative trait loci in variance component models.

    abstract:BACKGROUND:In this article, I propose a model-selection-free method to map multiple quantitative trait loci (QTL) in variance component model, which is useful in outbred populations. The new method can estimate the variance of zero-effect QTL infinitely to zero, but nearly unbiased for non-zero-effect QTL. It is analog...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-11-30

    authors: Fang M

    更新日期:2010-04-29 00:00:00

  • Polymorphisms and genetic effects of PRLR, MOGAT1, MINPP1 and CHUK genes on milk fatty acid traits in Chinese Holstein.

    abstract:BACKGROUND:Our initial genome-wide association study (GWAS) identified 20 promising candidate genes for milk fatty acid (FA) traits in a Chinese Holstein population, including PRLR, MOGAT1, MINPP1 and CHUK genes. In this study, we performed whether they had significant genetic effects on milk FA traits in Chinese Holst...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-019-0769-1

    authors: Shi L,Liu L,Lv X,Ma Z,Yang Y,Li Y,Zhao F,Sun D,Han B

    更新日期:2019-08-16 00:00:00

  • Cattle phenotypes can disguise their maternal ancestry.

    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

    authors: Srirattana K,McCosker K,Schatz T,St John JC

    更新日期:2017-06-26 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

  • Polymorphism analysis of six selenoprotein genes: support for a selective sweep at the glutathione peroxidase 1 locus (3p21) in Asian populations.

    abstract:BACKGROUND:There are at least 25 human selenoproteins, each characterized by the incorporation of selenium into the primary sequence as the amino acid selenocysteine. Since many selenoproteins have antioxidant properties, it is plausible that inter-individual differences in selenoprotein expression or activity could in...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-7-56

    authors: Foster CB,Aswath K,Chanock SJ,McKay HF,Peters U

    更新日期:2006-12-11 00:00:00

  • Quantitative trait loci in Anopheles gambiae controlling the encapsulation response against Plasmodium cynomolgi Ceylon.

    abstract:BACKGROUND:Anopheles gambiae females are the world's most successful vectors of human malaria. However, a fraction of these mosquitoes is refractory to Plasmodium development. L3-5, a laboratory selected refractory strain, encapsulates transforming ookinetes/early oocysts of a wide variety of Plasmodium species. Previo...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-4-16

    authors: Zheng L,Wang S,Romans P,Zhao H,Luna C,Benedict MQ

    更新日期:2003-10-24 00:00:00

  • A post-GWAS confirming effects of PRKG1 gene on milk fatty acids in a Chinese Holstein dairy population.

    abstract:BACKGROUND:We previously conducted a genome-wide association study (GWAS) strategy for milk fatty acids in Chinese Holstein, and identified 83 genome-wide significant single nucleotide polymorphisms (SNPs) and 314 suggestive significant SNPs. Among them, two SNPs, BTB-01077939 and BTA-11275-no-rs associated with C10:0,...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-019-0755-7

    authors: Shi L,Lv X,Liu L,Yang Y,Ma Z,Han B,Sun D

    更新日期:2019-07-03 00:00:00

  • Genetic insights into dispersal distance and disperser fitness of African lions (Panthera leo) from the latitudinal extremes of the Kruger National Park, South Africa.

    abstract:BACKGROUND:Female lions generally do not disperse far beyond their natal range, while males can disperse distances of over 200 km. However, in bush-like ecosystems dispersal distances less than 25 km are reported. Here, we investigate dispersal in lions sampled from the northern and southern extremes of Kruger National...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-018-0607-x

    authors: van Hooft P,Keet DF,Brebner DK,Bastos ADS

    更新日期:2018-04-03 00:00:00

  • Interval estimation of disease loci: development and applications of new linkage methods.

    abstract::Three variants of the confidence set inference (CSI) procedure were proposed and applied to both the simulated and the Collaborative Study on the Genetics of Alcoholism (COGA) data. For each of the two applications, we first performed a preliminary genome scan study based on the microsatellite markers using the GENEHU...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-S1-S21

    authors: Papachristou C,Lin S

    更新日期:2005-12-30 00:00:00

  • The transcription of MGAT4A glycosyl transferase is increased in white cells of peripheral blood of type 2 diabetes patients.

    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

    authors: López-Orduña E,Cruz M,García-Mena J

    更新日期:2007-10-22 00:00:00

  • Detecting responses to treatment with fenofibrate in pedigrees.

    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

    authors: Cherlin S,Wang MH,Bickeböller H,Cantor RM

    更新日期:2018-09-17 00:00:00

  • A power study of bivariate LOD score analysis of a complex trait and fear/discomfort with strangers.

    abstract::Complex diseases are often reported along with disease-related traits (DRT). Sometimes investigators consider both disease and DRT phenotypes separately and sometimes they consider individuals as affected if they have either the disease or the DRT, or both. We propose instead to consider the joint distribution of the ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-S1-S113

    authors: Ji F,Lee D,Mendell NR

    更新日期:2005-12-30 00:00:00

  • Association of dopaminergic pathway gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes.

    abstract:BACKGROUND:Genetic markers conferring susceptibility to diabetes specific renal disease remains to be identified for early prediction and development of effective drugs and therapies. Inconsistent results obtained from analysis of genes from classical pathways generate need for examination of unconventional genetic mar...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-9-26

    authors: Prasad P,Kumar KM,Ammini AC,Gupta A,Gupta R,Thelma BK

    更新日期:2008-03-22 00:00:00

  • Diagnosis of alcoholism based on neural network analysis of phenotypic risk factors.

    abstract:BACKGROUND:Alcoholism is a serious public health problem. It has both genetic and environmental causes. In an effort to gain understanding of the underlying genetic susceptibility to alcoholism, a long-term study has been undertaken. The Collaborative Study on the Genetics of Alcoholism (COGA) provides a rich source of...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-S1-S131

    authors: Falk CT

    更新日期:2005-12-30 00:00:00

  • Quantitative trait locus analysis for pod- and kernel-related traits in the cultivated peanut (Arachis hypogaea L.).

    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

    authors: Chen W,Jiao Y,Cheng L,Huang L,Liao B,Tang M,Ren X,Zhou X,Chen Y,Jiang H

    更新日期:2016-01-25 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

  • 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

  • A genome-wide association study for harness racing success in the Norwegian-Swedish coldblooded trotter reveals genes for learning and energy metabolism.

    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

    authors: Velie BD,Fegraeus KJ,Solé M,Rosengren MK,Røed KH,Ihler CF,Strand E,Lindgren G

    更新日期:2018-08-29 00:00:00

  • Detection of QTL with effects on osmoregulation capacities in the rainbow trout (Oncorhynchus mykiss).

    abstract:BACKGROUND:There is increasing evidence that the ability to adapt to seawater in teleost fish is modulated by genetic factors. Most studies have involved the comparison of species or strains and little is known about the genetic architecture of the trait. To address this question, we searched for QTL affecting osmoregu...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-12-46

    authors: Le Bras Y,Dechamp N,Krieg F,Filangi O,Guyomard R,Boussaha M,Bovenhuis H,Pottinger TG,Prunet P,Le Roy P,Quillet E

    更新日期:2011-05-14 00:00:00

  • SLC6A4 STin2 VNTR genetic polymorphism is associated with tobacco use disorder, but not with successful smoking cessation or smoking characteristics: a case control study.

    abstract:BACKGROUND:The aim of this study was to determine if variable number of tandem repeats (VNTR) in the second intron (STin2) of the serotonin transporter (SLC6A4) gene was associated with tobacco use disorder, successful smoking cessation, or smoking characteristics. In this case-control study, patients with current toba...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-15-78

    authors: Pizzo de Castro MR,Maes M,Guembarovski RL,Ariza CB,Reiche EM,Vargas HO,Vargas MM,de Melo LG,Dodd S,Berk M,Watanabe MA,Nunes SO

    更新日期:2014-06-27 00:00:00

  • Schrodinger's scat: a critical review of the currently available tiger (Panthera Tigris) and leopard (Panthera pardus) specific primers in India, and a novel leopard specific primer.

    abstract:BACKGROUND:Non-invasive sampling has opened avenues for the genetic study of elusive species, which has contributed significantly to their conservation. Where field based identity of non-invasive sample is ambiguous (e.g. carnivore scats), it is essential to establish identity of the species through molecular approache...

    journal_title:BMC genetics

    pub_type: 杂志文章,评审

    doi:10.1186/s12863-016-0344-y

    authors: Maroju PA,Yadav S,Kolipakam V,Singh S,Qureshi Q,Jhala Y

    更新日期:2016-02-09 00:00:00