当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

Abstract：

:Autosomal dominant progressive external ophthalmoplegia (adPEO) is a disorder characterized by ptosis, progressive weakness of the external eye muscles, and general muscle weakness. The patients have multiple deletions of mtDNA on Southern blots or in PCR analysis of muscle DNA and a mild deficiency of one or more respiratory-chain enzymes carrying mtDNA-encoded subunits. The pattern of inheritance indicates a nuclear gene defect predisposing to secondary mtDNA deletions. Recently, in one Finnish family, we assigned an adPEO locus to chromosome 10q 23.3-24.3 but also excluded linkage to this same locus in two Italian adPEO families with a phenotype closely resembling the Finnish one. We applied a random mapping approach to informative non-10q-linked Italian families to assign the second locus for adPEO and found strong evidence for linkage on chromosome 3p 14.1-21.2 in three Italian families, with a maximum two-point lod score of 4.62 at a recombination fraction of .0. However, in three additional families, linkage to the same chromosomal region was clearly absent, indicating further genetic complexity of the adPEO trait.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Kaukonen JA,Amati P,Suomalainen A,Rötig A,Piscaglia MG,Salvi F,Weissenbach J,Fratta G,Comi G,Peltonen L,Zeviani M

subject

Has Abstract

pub_date

1996-04-01 00:00:00

pages

763-9

issue

4

eissn

0002-9297

issn

1537-6605

journal_volume

58

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.

    abstract：:The segregation of COL1A1 and COL1A2, the two genes which encode the chains of type I collagen, was analyzed in 38 dominant osteogenesis imperfecta (OI) pedigrees by using polymorphic markers within or close to the genes. This was done in order to estimate the consistency of linkage of OI genes to these two loci. None...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Sykes B,Ogilvie D,Wordsworth P,Wallis G,Mathew C,Beighton P,Nicholls A,Pope FM,Thompson E,Tsipouras P

    更新日期：1990-02-01 00:00:00

  • Patterns of maternal transmission in bipolar affective disorder.

    abstract：:The mode of inheritance of bipolar affective disorder (BPAD) appears complex, and non-Mendelian models of inheritance have been postulated. Two non-Mendelian phenomena, genomic imprinting and mitochondrial inheritance, may contribute to the complex inheritance pattern seen in BPAD. Both imprinting and mitochondrial in...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： McMahon FJ,Stine OC,Meyers DA,Simpson SG,DePaulo JR

    更新日期：1995-06-01 00:00:00

  • A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.

    abstract：:The Huntington disease (HD) gene has been mapped to the most distal subband of chromosome 4p. Analysis of recombination events has not provided an unequivocal location of the HD gene, but it indicates a position very close to the telomere as one possibility. We have constructed a yeast artificial chromosome (YAC) vect...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bates GP,MacDonald ME,Baxendale S,Sedlacek Z,Youngman S,Romano D,Whaley WL,Allitto BA,Poustka A,Gusella JF

    更新日期：1990-04-01 00:00:00

  • Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

    abstract：:The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MBOAT7, encoding lysopho...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.07.019

    authors： Johansen A,Rosti RO,Musaev D,Sticca E,Harripaul R,Zaki M,Çağlayan AO,Azam M,Sultan T,Froukh T,Reis A,Popp B,Ahmed I,John P,Ayub M,Ben-Omran T,Vincent JB,Gleeson JG,Abou Jamra R

    更新日期：2016-10-06 00:00:00

  • Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

    abstract：:Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and alternative treatment strategies are urgently required. Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large c...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.02.010

    authors： Zarouchlioti C,Sanchez-Pintado B,Hafford Tear NJ,Klein P,Liskova P,Dulla K,Semo M,Vugler AA,Muthusamy K,Dudakova L,Levis HJ,Skalicka P,Hysi P,Cheetham ME,Tuft SJ,Adamson P,Hardcastle AJ,Davidson AE

    更新日期：2018-04-05 00:00:00

  • Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.

    abstract：:We have previously demonstrated genetic linkage between the type VII collagen gene (COL7A1) and the dominant (DDEB) and recessive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identified pathogenetic mutations in several families. Mutations in DDEB identified thus far are glycine substit...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Christiano AM,Anton-Lamprecht I,Amano S,Ebschner U,Burgeson RE,Uitto J

    更新日期：1996-04-01 00:00:00

  • Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

    abstract：:We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy. This alteration, located at base pair 6 of the intron 20 donor splice site, is present on >99.5% of FD chromosomes and results in ti...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/368263

    authors： Cuajungco MP,Leyne M,Mull J,Gill SP,Lu W,Zagzag D,Axelrod FB,Maayan C,Gusella JF,Slaugenhaupt SA

    更新日期：2003-03-01 00:00:00

  • Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

    abstract：:EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and c.2008T>G in EXTL3 in nine affected individ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.01.013

    authors： Oud MM,Tuijnenburg P,Hempel M,van Vlies N,Ren Z,Ferdinandusse S,Jansen MH,Santer R,Johannsen J,Bacchelli C,Alders M,Li R,Davies R,Dupuis L,Cale CM,Wanders RJA,Pals ST,Ocaka L,James C,Müller I,Lehmberg K,Strom T

    更新日期：2017-02-02 00:00:00

  • Segregation of all four major fibrillar collagen genes in the Marfan syndrome.

    abstract：:Linkage markers at or close to the genes encoding the three major fibrillar collagens were used to analyze the segregation of these loci in six pedigrees with dominantly inherited Marfan syndrome. Four pedigrees were discordant at one of the Type I collagen loci (COL1A2), and, of these, two were discordant at the othe...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ogilvie DJ,Wordsworth BP,Priestley LM,Dalgleish R,Schmidtke J,Zoll B,Sykes BC

    更新日期：1987-12-01 00:00:00

  • Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3.

    abstract：:Progressive X-linked cone-rod dystrophy (COD1) is a retinal disease affecting primarily the cone photoreceptors. The COD1 locus originally was localized, by the study of three independent families, to a region between Xp11.3 and Xp21.1, encompassing the retinitis pigmentosa (RP) 3 locus. We have refined the COD1 locus...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301667

    authors： Seymour AB,Dash-Modi A,O'Connell JR,Shaffer-Gordon M,Mah TS,Stefko ST,Nagaraja R,Brown J,Kimura AE,Ferrell RE,Gorin MB

    更新日期：1998-01-01 00:00:00

  • Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

    abstract：:The connective-tissue disorder occipital horn syndrome (OHS) is hypothesized to be allelic to Menkes disease. The two diseases have different clinical presentations but have a similar abnormality of copper transport. Mice hemizygous for the blotchy allele of the X-linked mottled locus have similar connective-tissue de...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Das S,Levinson B,Vulpe C,Whitney S,Gitschier J,Packman S

    更新日期：1995-03-01 00:00:00

  • Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.

    abstract：:Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function mutations in SPECC1L are pathogenic for this human developmental disorder and that SPECC1L is a critical organizer of vertebrate facial morphogenesis. During murine...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.05.023

    authors： Saadi I,Alkuraya FS,Gisselbrecht SS,Goessling W,Cavallesco R,Turbe-Doan A,Petrin AL,Harris J,Siddiqui U,Grix AW Jr,Hove HD,Leboulch P,Glover TW,Morton CC,Richieri-Costa A,Murray JC,Erickson RP,Maas RL

    更新日期：2011-07-15 00:00:00

  • The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.

    abstract：:Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder of the melanin pigmentary system. South African ty-pos OCA individuals occur with two distinct phenotypes, with or without darkly pigmented patches (ephelides, or dendritic freckles) on exposed areas of the skin. These phenotyp...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kedda MA,Stevens G,Manga P,Viljoen C,Jenkins T,Ramsay M

    更新日期：1994-06-01 00:00:00

  • Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.

    abstract：:X-linked adrenoleukodystrophy (ALD), a neurodegenerative disorder associated with impaired beta-oxidation of very-long-chain fatty acids (VLCFA), is due to mutations in a gene encoding a peroxisomal ATP-binding cassette (ABC) transporter (ALD protein [ALDP]). We analyzed the open reading frame of the ALD gene in 44 Fr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Feigenbaum V,Lombard-Platet G,Guidoux S,Sarde CO,Mandel JL,Aubourg P

    更新日期：1996-06-01 00:00:00

  • Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

    abstract：:Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the lysosomal glycosidase alpha-L-iduronidase. Hurler (severe), Scheie (mild), and Hurler/Scheie (intermediate) syndromes are clinical subtypes of MPS-I, but it is difficult to distinguish between these subtypes by...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Scott HS,Litjens T,Nelson PV,Thompson PR,Brooks DA,Hopwood JJ,Morris CP

    更新日期：1993-11-01 00:00:00

  • A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions.

    abstract：:Predictive genomic profiling used to produce personalized nutrition and other lifestyle health recommendations is currently offered directly to consumers. By examining previous meta-analyses and HuGE reviews, we assessed the scientific evidence supporting the purported gene-disease associations for genes included in g...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2007.12.020

    authors： Janssens AC,Gwinn M,Bradley LA,Oostra BA,van Duijn CM,Khoury MJ

    更新日期：2008-03-01 00:00:00

  • Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27.

    abstract：:Linkage disequilibrium was observed between newly identified DNA polymorphisms and a previously described protein polymorphism for plasminogen. This finding implies that the two types of polymorphisms describe variation at the same locus. The plasminogen gene was mapped to chromosomal bands 6q26-q27 using somatic-cell...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Murray JC,Buetow KH,Donovan M,Hornung S,Motulsky AG,Disteche C,Dyer K,Swisshelm K,Anderson J,Giblett E

    更新日期：1987-04-01 00:00:00

  • "Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes.

    abstract：:Triplets of the form of purine, purine, pyrimidine (RRY(i)) are enhanced in frequency in the genomes of primates, rodents, and bacteria. Some RRY(i) are "cryptic" repeats (cRRY(i)) in which no one tandem run of a trinucleotide predominates. A search of human GenBank sequence revealed that the sequences of cRRY(i) are ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Gostout B,Liu Q,Sommer SS

    更新日期：1993-06-01 00:00:00

  • Tay-Sachs screening: motives for participating and knowledge of genetics and probability.

    abstract：:A highly-educated, socially aware group of persons presented themselves for Tay-Sachs screening having learned about it mainly from friends, newspapers, radio, and television but not from physicians or rabbis. After learning that screening was possible and deciding that it is in principle a good idea, and after discus...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Childs B,Gordis L,Kaback MM,Kazazian HH Jr

    更新日期：1976-11-01 00:00:00

  • Liver alcohol dehydrogenase in Japanese: high population frequency of atypical form and its possible role in alcohol sensitivity.

    abstract：:Electrophoretic and quantitative studies reveal that 85% of Japanese carry an atypical liver alcohol dehydrogenase (ADH). The frequency of ADH polymorphism is identical with the reported frequency of alcohol sensitivity in the Japanese population. This identity in population frequencies points to a causative relations...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Stamatoyannopoulos G,Chen SH,Fukui M

    更新日期：1975-11-01 00:00:00

  • Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

    abstract：:The critical importance of cytoskeletal function for correct neuronal migration during development of the cerebral cortex has been underscored by the identities of germline mutations underlying a number of human neurodevelopmental disorders. The proteins affected include TUBA1A, a major alpha-tubulin isoform, and micr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.10.007

    authors： Abdollahi MR,Morrison E,Sirey T,Molnar Z,Hayward BE,Carr IM,Springell K,Woods CG,Ahmed M,Hattingh L,Corry P,Pilz DT,Stoodley N,Crow Y,Taylor GR,Bonthron DT,Sheridan E

    更新日期：2009-11-01 00:00:00

  • Chronic and recurrent otitis media: a genome scan for susceptibility loci.

    abstract：:Otitis media (OM) is the most common childhood disease. Almost all children experience at least one episode, but morbidity is greatest in children who experience chronic/recurrent OM (COME/ROM). There is mounting evidence that COME/ROM clusters in families and exhibits substantial heritability. Subjects who had tympan...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/426061

    authors： Daly KA,Brown WM,Segade F,Bowden DW,Keats BJ,Lindgren BR,Levine SC,Rich SS

    更新日期：2004-12-01 00:00:00

  • Genome-wide association study identifies candidate genes for male fertility traits in humans.

    abstract：:Despite the fact that hundreds of genes are known to affect fertility in animal models, relatively little is known about genes that influence natural fertility in humans. To broadly survey genes contributing to variation in male fertility, we conducted a genome-wide association study (GWAS) of two fertility traits (fa...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.04.016

    authors： Kosova G,Scott NM,Niederberger C,Prins GS,Ober C

    更新日期：2012-06-08 00:00:00

  • Localization of multiple melanoma tumor-suppressor genes on chromosome 11 by use of homozygosity mapping-of-deletions analysis.

    abstract：:Loss-of-heterozygosity (LOH) studies have implicated one or more chromosome 11 tumor-suppressor gene(s) in the development of cutaneous melanoma as well as a variety of other forms of human cancer. In the present study, we have identified multiple independent critical regions on this chromosome by use of homozygosity ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302999

    authors： Goldberg EK,Glendening JM,Karanjawala Z,Sridhar A,Walker GJ,Hayward NK,Rice AJ,Kurera D,Tebha Y,Fountain JW

    更新日期：2000-08-01 00:00:00

  • Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.

    abstract：:Although type IV glycogen storage disease (Andersen disease; McKusick 23250) is considered to be a rare, autosomally recessive disorder, of the more than 600 patients with glycogenosis identified in our laboratory by enzymatic assays, 6% have been shown to be deficient in the glycogen branching enzyme. Most of the 38 ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Brown BI,Brown DH

    更新日期：1989-03-01 00:00:00

  • A genomewide search for quantitative-trait loci underlying asthma.

    abstract：:A genomewide screen for quantitative-trait loci (QTLs) that underlie asthma was performed on 533 Chinese families with asthma, by the unified Haseman-Elston method. Nine asthma-related phenotypes were studied, including forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), airway responsiveness as indic...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/324650

    authors： Xu X,Fang Z,Wang B,Chen C,Guang W,Jin Y,Yang J,Lewitzky S,Aelony A,Parker A,Meyer J,Weiss ST,Xu X

    更新日期：2001-12-01 00:00:00

  • A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting.

    abstract：:We describe a log-linear method for analysis of case-parent-triad data, based on maximum likelihood with stratification on parental mating type. The method leads to estimates of association parameters, such as relative risks, for a single allele, and also to likelihood ratio chi2 tests (LRTs) of linkage disequilibrium...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301802

    authors： Weinberg CR,Wilcox AJ,Lie RT

    更新日期：1998-04-01 00:00:00

  • Polymporphism of human C-band heterochromatin. II. Family studies with suggestive evidence for somatic crossing over.

    abstract：:An analysis of the inherited pattern of C-band heterochromatin has been made in five pedigrees containing a total of 33 offspring that were available for analysis. The majority of variants were found to be inherited; however, at least seven of the 99 variants were not present in either parent, and an additional seven ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Craig-Holmes AP,Moore FB,Shaw MW

    更新日期：1975-03-01 00:00:00

  • Allele-Specific QTL Fine Mapping with PLASMA.

    abstract：:Although quantitative trait locus (QTL) associations have been identified for many molecular traits such as gene expression, it remains challenging to distinguish the causal nucleotide from nearby variants. In addition to traditional QTLs by association, allele-specific (AS) QTLs are a powerful measure of cis-regulati...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.12.011

    authors： Wang AT,Shetty A,O'Connor E,Bell C,Pomerantz MM,Freedman ML,Gusev A

    更新日期：2020-02-06 00:00:00

  • Faster sequential genetic linkage computations.

    abstract：:Linkage analysis using maximum-likelihood estimation is a powerful tool for locating genes. As available data sets have grown, the computation required for analysis has grown exponentially and become a significant impediment. Others have previously shown that parallel computation is applicable to linkage analysis and ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Cottingham RW Jr,Idury RM,Schäffer AA

    更新日期：1993-07-01 00:00:00