当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.

Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.

Abstract：

:Two female identical twins who were clinically normal were obligatory heterozygotes for X-linked deuteranomaly associated with a green-red fusion gene derived from their deuteranomalous father. On anomaloscopy, one of the twins was phenotypically deuteranomalous while the other had normal color vision. The color vision-defective twin had two sons with normal color vision and one deuteranomalous son. X-inactivation analysis was done with the highly informative probe M27 beta. This probe detects a locus (DXS255) which contains a VNTR and which is somewhat differentially methylated on the active and inactive X chromosomes. In skin cells of the color vision-defective twin, almost all paternal X chromosomes with the abnormal color-vision genes were active, thereby explaining her color-vision defect. In contrast, a different pattern was observed in skin cells from the woman with normal color vision; her maternal X chromosome was mostly active. However, in blood lymphocytes, both twins showed identical patterns with mixtures of inactivated maternal and paternal X chromosomes. Deuteranomaly in one of the twins is explained by extremely skewed X inactivation, as shown in skin cells. Failure to find this skewed pattern in blood cells is explained by the sharing of fetal circulation and exchange of hematopoietic precursor cells between twins. These data give evidence for X inactivation of the color-vision locus and add another MZ twin pair with markedly different X-inactivation patterns for X-linked traits.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Jørgensen AL,Philip J,Raskind WH,Matsushita M,Christensen B,Dreyer V,Motulsky AG

subject

Has Abstract

pub_date

1992-08-01 00:00:00

pages

291-8

issue

2

eissn

0002-9297

issn

1537-6605

journal_volume

51

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation.

    abstract：:At least 40% of families affected with cerebral cavernous malformation have a mutation in Krit1. We previously identified two point mutations in Krit1 leading to changes in amino acids (D137G and Q210E) in two different families. Further RNA analysis reveals that both point mutations actually activate cryptic splice-d...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/340604

    authors： Verlaan DJ,Siegel AM,Rouleau GA

    更新日期：2002-06-01 00:00:00

  • Human monoamine oxidase A gene determines levels of enzyme activity.

    abstract：:Monoamine oxidase (MAO) is a critical enzyme in the degradative deamination of biogenic amines throughout the body. Two biochemically distinct forms of the enzyme, A and B, are encoded in separate genes on the human X chromosome. In these studies we investigated the role of the structural gene for MAO-A in determining...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hotamisligil GS,Breakefield XO

    更新日期：1991-08-01 00:00:00

  • Discovery and fine mapping of serum protein loci through transethnic meta-analysis.

    abstract：:Many disorders are associated with altered serum protein concentrations, including malnutrition, cancer, and cardiovascular, kidney, and inflammatory diseases. Although these protein concentrations are highly heritable, relatively little is known about their underlying genetic determinants. Through transethnic meta-an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.ajhg.2012.08.021

    authors： Franceschini N,van Rooij FJ,Prins BP,Feitosa MF,Karakas M,Eckfeldt JH,Folsom AR,Kopp J,Vaez A,Andrews JS,Baumert J,Boraska V,Broer L,Hayward C,Ngwa JS,Okada Y,Polasek O,Westra HJ,Wang YA,Del Greco M F,Glazer NL,

    更新日期：2012-10-05 00:00:00

  • Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model.

    abstract：:Human fetuses with trisomy 21 (T21) have atypical brain development that is apparent sonographically in the second trimester. We hypothesize that by analyzing and integrating dysregulated gene expression and pathways common to humans with Down syndrome (DS) and mouse models we can discover novel targets for prenatal t...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.10.001

    authors： Guedj F,Siegel AE,Pennings JLA,Alsebaa F,Massingham LJ,Tantravahi U,Bianchi DW

    更新日期：2020-11-05 00:00:00

  • The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

    abstract：:Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Dixon MJ,Read AP,Donnai D,Colley A,Dixon J,Williamson R

    更新日期：1991-07-01 00:00:00

  • Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies.

    abstract：:We report the development and validation of experimental methods, study designs, and analysis software for pooling-based genomewide association (GWA) studies that use high-throughput single-nucleotide-polymorphism (SNP) genotyping microarrays. We first describe a theoretical framework for establishing the effectivenes...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/510686

    authors： Pearson JV,Huentelman MJ,Halperin RF,Tembe WD,Melquist S,Homer N,Brun M,Szelinger S,Coon KD,Zismann VL,Webster JA,Beach T,Sando SB,Aasly JO,Heun R,Jessen F,Kolsch H,Tsolaki M,Daniilidou M,Reiman EM,Papassotiropoul

    更新日期：2007-01-01 00:00:00

  • Mitochondrial dysfunction in idiopathic Parkinson disease.

    abstract：:Disordered mitochondrial metabolism may play an important role in a number of idiopathic neurodegenerative disorders. The question of mitochondrial dysfunction is particularly attractive in the case of idiopathic Parkinson disease (PD), since Vyas et al. recognized in the 1980s that the parkinsonism-inducing compound ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1086/301812

    authors： Parker WD Jr,Swerdlow RH

    更新日期：1998-04-01 00:00:00

  • Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.

    abstract：:Miller-Dieker syndrome (MDS), a disorder manifesting the severe brain malformation lissencephaly ("smooth brain"), is caused, in the majority of cases, by a chromosomal microdeletion of the distal short arm of chromosome 17. Using human chromosome 17-specific DNA probes, we have begun a molecular dissection of the cri...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： vanTuinen P,Dobyns WB,Rich DC,Summers KM,Robinson TJ,Nakamura Y,Ledbetter DH

    更新日期：1988-11-01 00:00:00

  • Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

    abstract：:N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of t...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.03.004

    authors： Cheng H,Dharmadhikari AV,Varland S,Ma N,Domingo D,Kleyner R,Rope AF,Yoon M,Stray-Pedersen A,Posey JE,Crews SR,Eldomery MK,Akdemir ZC,Lewis AM,Sutton VR,Rosenfeld JA,Conboy E,Agre K,Xia F,Walkiewicz M,Longoni M,H

    更新日期：2018-05-03 00:00:00

  • Pulsed-field electrophoresis screening for immunoglobulin heavy-chain constant-region (IGHC) multigene deletions and duplications.

    abstract：:Genome regions containing multiple copies of homologous genes, such as the immunoglobulin (Ig) heavy-chain constant-region (IGHC) locus, are often unstable and give rise to duplicated and deleted haplotypes. Analysis of such processes is fundamental to understanding the mechanisms of evolution of multigene families. I...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bottaro A,Cariota U,DeMarchi M,Carbonara AO

    更新日期：1991-04-01 00:00:00

  • From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health.

    abstract：:Phenotypes are rarely consistent across genetic backgrounds and environments, but instead vary in many ways depending on allelic variants, unlinked genes, epigenetic factors, and environmental exposures. In the extreme, individuals carrying the same causal DNA sequence variant but on different backgrounds can be class...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ajhg.2017.06.004

    authors： Riordan JD,Nadeau JH

    更新日期：2017-08-03 00:00:00

  • Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.

    abstract：:The introduction of stochastic methods in pedigree analysis has enabled geneticists to tackle computations intractable by standard deterministic methods. Until now these stochastic techniques have worked by running a Markov chain on the set of genetic descent states of a pedigree. Each descent state specifies the path...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Sobel E,Lange K

    更新日期：1996-06-01 00:00:00

  • Characterization of a spontaneous mutation to a beta-thalassemia allele.

    abstract：:We have studied a nuclear family containing a single child with severe beta-thalassemia intermedia, a Greek-Cypriot mother with hematological findings of beta-thalassemia trait, and a Polish father who is hematologically normal. Since both the child and her father were heterozygous for a DNA polymorphism within the be...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kazazian HH Jr,Orkin SH,Boehm CD,Goff SC,Wong C,Dowling CE,Newburger PE,Knowlton RG,Brown V,Donis-Keller H

    更新日期：1986-06-01 00:00:00

  • Refined genetic localization for central core disease.

    abstract：:Central core disease (CCO) is an autosomal dominant myopathy clinically distinct from malignant hyperthermia (MHS). In a large kindred in which the gene for CCO is segregating, two-point linkage analysis gave a maximum lod score, between the central core disease locus (CCO) and the ryanodine receptor locus (RYR1), of ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Mulley JC,Kozman HM,Phillips HA,Gedeon AK,McCure JA,Iles DE,Gregg RG,Hogan K,Couch FJ,MacLennan DH

    更新日期：1993-02-01 00:00:00

  • Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

    abstract：:The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive neurodegenerative disorders characterized by brain iron deposits in the basal ganglia. For about half of the cases, the molecular basis is currently unknown. We use...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.09.007

    authors： Hartig MB,Iuso A,Haack T,Kmiec T,Jurkiewicz E,Heim K,Roeber S,Tarabin V,Dusi S,Krajewska-Walasek M,Jozwiak S,Hempel M,Winkelmann J,Elstner M,Oexle K,Klopstock T,Mueller-Felber W,Gasser T,Trenkwalder C,Tiranti V,Kr

    更新日期：2011-10-07 00:00:00

  • Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males.

    abstract：:The original test for the analysis of the CCG expansion at the FRAXE locus involves Southern blot analysis of HindIII digests. We show that, by using a different probe, the FRAXE mutation can be detected easily on the same EcoRI or EagI+EcoRI blots as are used for detection of FRAXA. Unexpectedly, we found that both t...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Biancalana V,Taine L,Bouix JC,Finck S,Chauvin A,De Verneuil H,Knight SJ,Stoll C,Lacombe D,Mandel JL

    更新日期：1996-10-01 00:00:00

  • Neuropsychological endophenotype approach to genome-wide linkage analysis identifies susceptibility loci for ADHD on 2q21.1 and 13q12.11.

    abstract：:ADHD linkage findings have not all been consistently replicated, suggesting that other approaches to linkage analysis in ADHD might be necessary, such as the use of (quantitative) endophenotypes (heritable traits associated with an increased risk for ADHD). Genome-wide linkage analyses were performed in the Dutch subs...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2008.06.006

    authors： Rommelse NN,Arias-Vásquez A,Altink ME,Buschgens CJ,Fliers E,Asherson P,Faraone SV,Buitelaar JK,Sergeant JA,Oosterlaan J,Franke B

    更新日期：2008-07-01 00:00:00

  • Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

    abstract：:Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to e...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.11.002

    authors： Mavaddat N,Michailidou K,Dennis J,Lush M,Fachal L,Lee A,Tyrer JP,Chen TH,Wang Q,Bolla MK,Yang X,Adank MA,Ahearn T,Aittomäki K,Allen J,Andrulis IL,Anton-Culver H,Antonenkova NN,Arndt V,Aronson KJ,Auer PL,Auvinen

    更新日期：2019-01-03 00:00:00

  • Application of DNA-DNA hybridization of dual labeled probes to the detection of trisomy 21, monosomy 21, and sex determination.

    abstract：:Chromosomal aneuploidy is usually identified by cytogenetic methods. However, for some purposes it would be desirable to have an easier method of recognizing specific trisomies or monosomies. We have devised such an assay. It involves the simultaneous hybridization of two chromosome-specific DNA probes labeled with di...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Dahl HH,Choo KH,Danks DM

    更新日期：1988-10-01 00:00:00

  • A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

    abstract：:In spondylocostal dysostosis (SD), vertebral-segmentation defects are associated with rib anomalies. This results in short-trunk short stature, nonprogressive kyphoscoliosis, and radiological features of multiple hemivertebrae and rib fusions. SD can be familial, and both autosomal dominant and autosomal recessive (AR...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302464

    authors： Turnpenny PD,Bulman MP,Frayling TM,Abu-Nasra TK,Garrett C,Hattersley AT,Ellard S

    更新日期：1999-07-01 00:00:00

  • Allele frequency distribution of two highly polymorphic DNA sequences in three ethnic groups and its application to the determination of paternity.

    abstract：:The allele frequency distribution of two highly polymorphic DNA sequences has been determined in three ethnic groups (American blacks, Caucasoids, and Hispanics) from the New York metropolitan area. The two loci examined were D14S1 and the flanking region of HRAS-1. The former was analyzed in EcoRI-digested DNA and th...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Baird M,Balazs I,Giusti A,Miyazaki L,Nicholas L,Wexler K,Kanter E,Glassberg J,Allen F,Rubinstein P

    更新日期：1986-10-01 00:00:00

  • WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.

    abstract：:Osteogenesis imperfecta (OI) is a heritable disorder that ranges in severity from death in the perinatal period to an increased lifetime risk of fracture. Mutations in COL1A1 and COL1A2, which encode the chains of type I procollagen, result in dominant forms of OI, and mutations in several other genes result in recess...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.02.009

    authors： Pyott SM,Tran TT,Leistritz DF,Pepin MG,Mendelsohn NJ,Temme RT,Fernandez BA,Elsayed SM,Elsobky E,Verma I,Nair S,Turner EH,Smith JD,Jarvik GP,Byers PH

    更新日期：2013-04-04 00:00:00

  • Genetic heterogeneity of insulin-dependent (type I) diabetes mellitus: evidence from a study of extended haplotypes.

    abstract：:Two hundred subjects with insulin-dependent (type I) diabetes mellitus (IDDM) were typed for HLA-B, HLA-DR, and properdin factor B (Bf). HLA and Bf antigen and haplotype frequencies in subjects were compared with control frequencies derived from the 8th HLA Workshop. Frequencies of extended haplotypes (defined by B-Bf...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Rich SS,Weitkamp LR,Barbosa J

    更新日期：1984-09-01 00:00:00

  • Smoking, DNA Methylation, and Lung Function: a Mendelian Randomization Analysis to Investigate Causal Pathways.

    abstract：:Whether smoking-associated DNA methylation has a causal effect on lung function has not been thoroughly evaluated. We first investigated the causal effects of 474 smoking-associated CpGs on forced expiratory volume in 1 s (FEV1) in UK Biobank (n = 321,047) by using two-sample Mendelian randomization (MR) and then repl...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.01.015

    authors： Jamieson E,Korologou-Linden R,Wootton RE,Guyatt AL,Battram T,Burrows K,Gaunt TR,Tobin MD,Munafò M,Davey Smith G,Tilling K,Relton C,Richardson TG,Richmond RC

    更新日期：2020-03-05 00:00:00

  • Evaluating pedigree data. I. The estimation of pedigree error in the presence of marker mistyping.

    abstract：:Pedigrees used in the analysis of genetic or medical data are usually ascertained from sources subject to a variety of errors including misidentification of individuals, faults in historical documents or record linkage, nonpaternity, and unidentified adoption. Genetic markers can be used to verify putative family and ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Lathrop GM,Hooper AB,Huntsman JW,Ward RH

    更新日期：1983-03-01 00:00:00

  • Average heterozygosity revisited.

    abstract：:The estimate of heterozygosity and proportion of polymorphic loci for 33 red blood cell loci has been updated by the elimination of some loci of questionable status and the addition of data on 33 loci. The new figures for heterozygosity and proportion of polymorphic loci, .105 and .283, respectively, are based on 60 r...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hedrick PW,Murray E

    更新日期：1978-07-01 00:00:00

  • Physical linkage of a GABAA receptor subunit gene to the DXS374 locus in human Xq28.

    abstract：:We report the physical linkage of the gene encoding one of the subunits of the GABAA receptor (GABRA3) to the polymorphic locus DXS374 on the human X chromosome at Xq28. X-linked manic depression and other psychiatric disorders have been mapped to this region, and thus GABRA3 is a potential candidate gene for these di...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bell MV,Bloomfield J,McKinley M,Patterson MN,Darlison MG,Barnard EA,Davies KE

    更新日期：1989-12-01 00:00:00

  • Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

    abstract：:An autosomal recessive deficiency of acid alpha-glucosidase (GAA), type II glycogenosis, is genetically and clinically heterogeneous. The discovery of an enzyme-inactivating genomic deletion of exon 18 in three unrelated genetic compound patients--two infants and an adult--provided a rare opportunity to analyze the ef...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Boerkoel CF,Exelbert R,Nicastri C,Nichols RC,Miller FW,Plotz PH,Raben N

    更新日期：1995-04-01 00:00:00

  • GDF5 is a second locus for multiple-synostosis syndrome.

    abstract：:Multiple-synostosis syndrome is an autosomal dominant disorder characterized by progressive symphalangism, carpal/tarsal fusions, deafness, and mild facial dysmorphism. Heterozygosity for functional null mutations in the NOGGIN gene has been shown to be responsible for the disorder. However, in a cohort of six proband...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/503204

    authors： Dawson K,Seeman P,Sebald E,King L,Edwards M,Williams J 3rd,Mundlos S,Krakow D

    更新日期：2006-04-01 00:00:00

  • Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).

    abstract：:A new polymorphic DNA marker U6.2, defining the locus DXS304, was recently isolated and mapped to the Xq27 region of the X chromosome. In the previous communication we describe a linkage study encompassing 16 fragile-X families and using U6.2 and five previously described polymorphic markers at Xq26-q28. One recombina...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Dahl N,Goonewardena P,Malmgren H,Gustavson KH,Holmgren G,Seemanova E,Annerén G,Flood A,Pettersson U

    更新日期：1989-08-01 00:00:00