当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Characterization of the patterns of polymorphism in a "cryptic repeat" reveals a novel type of hypervariable sequence.

Characterization of the patterns of polymorphism in a "cryptic repeat" reveals a novel type of hypervariable sequence.

Abstract：

:Alternating purine and pyrimidine repeats (RY(i)) are an abundant source of polymorphism. The subset with long tandem repeats of GT or AC (GT(i)) have been studied extensively, but cryptic RY(i) (i.e., no single tandem repeat predominates) have received little attention. The factor IX gene has a polymorphic cryptic RY(i) of 142-216 bp. Previously, there were four known polymorphic alleles, of the form AB, A2B, A2B2, and A3B2, where A = (GT)(AC)3(AT)3(GT)(AT)4 and B = A with an additional 3' AT dinucleotide. To further characterize this locus, we examined more than 1,700 additional human chromosomes and determined the sequences of the homologous sites in orangutans and chimpanzees. The novel alleles found in humans expand the repertoire of A/B alleles to A0-4B1 and A1-3B2. The AnB2 series are abundant in Caucasians but are absent in blacks and Asians. Conversely, the A0B1 allele is common in blacks but is not found in more than 1,700 Caucasian chromosomes. The data are compatible with a model in which recombination is more frequent than polymerase slippage at this locus. In orangutans, the RY(i) is present, but the sequence is markedly different. An A/B-type of pattern was discerned in which B differs from A by an additional six (AT) dinucleotides at the 3' end. In chimpanzees, the size of the RY(i) locus was greatly expanded, and the sequence showed a novel pattern of hypervariability in which there are many tandem repeats of the form (GT)n(AC)o(AT)p(GT)q(AT)s, where n, o, p, q, and s are different integers. The sequences of the factor IX intron 1 cryptic RY(i) in three primates provide perspective on the range of possible patterns of polymorphism. Analysis of the patterns suggests how the RY(i) can be conserved during evolution, while the precise sequence varies.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Jacobson DP,Schmeling P,Sommer SS

subject

Has Abstract

pub_date

1993-08-01 00:00:00

pages

443-50

issue

2

eissn

0002-9297

issn

1537-6605

journal_volume

53

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Genes for Good: Engaging the Public in Genetics Research via Social Media.

    abstract：:The Genes for Good study uses social media to engage a large, diverse participant pool in genetics research and education. Health history and daily tracking surveys are administered through a Facebook application, and participants who complete a minimum number of surveys are mailed a saliva sample kit ("spit kit") to ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.05.006

    authors： Brieger K,Zajac GJM,Pandit A,Foerster JR,Li KW,Annis AC,Schmidt EM,Clark CP,McMorrow K,Zhou W,Yang J,Kwong AM,Boughton AP,Wu J,Scheller C,Parikh T,de la Vega A,Brazel DM,Frieser M,Rea-Sandin G,Fritsche LG,Vrieze

    更新日期：2019-07-03 00:00:00

  • A population-based study of familial Alzheimer disease: linkage to chromosomes 14, 19, and 21.

    abstract：:Linkage of Alzheimer disease (AD) to DNA markers on chromosomes 14, 19, and 21 was studied in 10 families in which the disease was apparently inherited as an autosomal dominant trait. Families were derived from a Dutch population-based epidemiologic study of early-onset AD. Although in all probands the onset of AD was...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： van Duijn CM,Hendriks L,Farrer LA,Backhovens H,Cruts M,Wehnert A,Hofman A,Van Broeckhoven C

    更新日期：1994-10-01 00:00:00

  • A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

    abstract：:We report here the genetic cause of the X-linked syndrome of psychosis, pyramidal signs, and macro-orchidism (PPM-X) in a three-generation family manifesting the disorder as a mutation in the methyl-CpG binding-protein 2 (MECP2) gene in Xq28. The A140V mutation was found in all affected males and all carrier females i...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/339553

    authors： Klauck SM,Lindsay S,Beyer KS,Splitt M,Burn J,Poustka A

    更新日期：2002-04-01 00:00:00

  • Mitochondrial DNA polymorphism among five Asian populations.

    abstract：:Mitochondrial DNA (mtDNA) polymorphisms were detected using 13 restriction enzymes on the total DNA obtained from blood samples of five Asian populations: Japanese and Ainu of northern Japan, Korean, Negrito (Aeta) of the Philippines, and Vedda of Sri Lanka. Of a total of 28 restriction-enzyme morphs detected, eight h...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Harihara S,Saitou N,Hirai M,Gojobori T,Park KS,Misawa S,Ellepola SB,Ishida T,Omoto K

    更新日期：1988-08-01 00:00:00

  • Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11.

    abstract：:Rupture of intracranial aneurysms (IAs) causes subarachnoid hemorrhage, a devastating condition with high morbidity and mortality. Angiographic and autopsy studies show that IA is a common disorder, with a prevalence of 3%-6%. Although IA has a substantial genetic component, little attention has been given to the gene...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/323614

    authors： Onda H,Kasuya H,Yoneyama T,Takakura K,Hori T,Takeda J,Nakajima T,Inoue I

    更新日期：2001-10-01 00:00:00

  • Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

    abstract：:Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated with progressive myoclonic epilepsy (SMA-PME) has been reported as a rare autosomal-recessive con...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.05.001

    authors： Zhou J,Tawk M,Tiziano FD,Veillet J,Bayes M,Nolent F,Garcia V,Servidei S,Bertini E,Castro-Giner F,Renda Y,Carpentier S,Andrieu-Abadie N,Gut I,Levade T,Topaloglu H,Melki J

    更新日期：2012-07-13 00:00:00

  • Gain-of-function mutations in SCN11A cause familial episodic pain.

    abstract：:Many ion channel genes have been associated with human genetic pain disorders. Here we report two large Chinese families with autosomal-dominant episodic pain. We performed a genome-wide linkage scan with microsatellite markers after excluding mutations in three known genes (SCN9A, SCN10A, and TRPA1) that cause simila...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.09.016

    authors： Zhang XY,Wen J,Yang W,Wang C,Gao L,Zheng LH,Wang T,Ran K,Li Y,Li X,Xu M,Luo J,Feng S,Ma X,Ma H,Chai Z,Zhou Z,Yao J,Zhang X,Liu JY

    更新日期：2013-11-07 00:00:00

  • Tests for linkage and association in nuclear families.

    abstract：:The transmission/disequilibrium test (TDT) originally was introduced to test for linkage between a genetic marker and a disease-susceptibility locus, in the presence of association. Recently, the TDT has been used to test for association in the presence of linkage. The motivation for this is that linkage analysis typi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/514860

    authors： Martin ER,Kaplan NL,Weir BS

    更新日期：1997-08-01 00:00:00

  • Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

    abstract：:The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2007.12.011

    authors： Bruder CE,Piotrowski A,Gijsbers AA,Andersson R,Erickson S,Diaz de Ståhl T,Menzel U,Sandgren J,von Tell D,Poplawski A,Crowley M,Crasto C,Partridge EC,Tiwari H,Allison DB,Komorowski J,van Ommen GJ,Boomsma DI,Pedersen NL

    更新日期：2008-03-01 00:00:00

  • Genetic control of immune response to the L-Glu, L-Lys, L-Phe terpolymer in man.

    abstract：:We have demonstrated that human lymphocytes can respond to the synthetic polypeptide GLPhe upon in vitro challenge by the antigen similar to that of (H,G)-A--L, (T,G)-A--L, (Phe,G)-A--L, and GAT. Family studies further support our postulation that responses to these synthetic polymers are under dual gene control. Thre...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Chan MM,Bias WB,Hsu SH,Meyers DA

    更新日期：1985-05-01 00:00:00

  • Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.

    abstract：:Homologous recombination between poorly characterized regions flanking the NF1 locus causes the constitutional loss of approximately 1.5 Mb from 17q11.2 covering > or =11 genes in 5%-20% of patients with neurofibromatosis type 1 (NF1). To elucidate the extent of microheterogeneity at the deletion boundaries, we used s...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/323043

    authors： Jenne DE,Tinschert S,Reimann H,Lasinger W,Thiel G,Hameister H,Kehrer-Sawatzki H

    更新日期：2001-09-01 00:00:00

  • Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.

    abstract：:Joubert syndrome is a rare developmental defect of the cerebellar vermis, with autosomal recessive inheritance. The phenotype is highly variable and may include episodic hyperpnea, abnormal eye movements, hypotonia, ataxia, developmental delay, and mental retardation. Even within sibships the phenotype may vary, makin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302655

    authors： Saar K,Al-Gazali L,Sztriha L,Rueschendorf F,Nur-E-Kamal M,Reis A,Bayoumi R

    更新日期：1999-12-01 00:00:00

  • Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

    abstract：:Distal hereditary motor neuropathies comprise a clinically and genetically heterogeneous group of disorders. We recently mapped an X-linked form of this condition to chromosome Xq13.1-q21 in two large unrelated families. The region of genetic linkage included ATP7A, which encodes a copper-transporting P-type ATPase mu...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.01.027

    authors： Kennerson ML,Nicholson GA,Kaler SG,Kowalski B,Mercer JF,Tang J,Llanos RM,Chu S,Takata RI,Speck-Martins CE,Baets J,Almeida-Souza L,Fischer D,Timmerman V,Taylor PE,Scherer SS,Ferguson TA,Bird TD,De Jonghe P,Feely SM,

    更新日期：2010-03-12 00:00:00

  • Testing association between candidate-gene markers and phenotype in related individuals, by use of estimating equations.

    abstract：:Association studies are one of the major strategies for identifying genetic factors underlying complex traits. In samples of related individuals, conventional statistical procedures are not valid for testing association, and maximum likelihood (ML) methods have to be used, but they are computationally demanding and ar...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/513895

    authors： Trégouët DA,Ducimetière P,Tiret L

    更新日期：1997-07-01 00:00:00

  • Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

    abstract：:Deletions of the distal short arm of chromosome 1 (1p36) represent a common, newly delineated deletion syndrome, characterized by moderate to severe psychomotor retardation, seizures, growth delay, and dysmorphic features. Previous cytogenetic underascertainment of this chromosomal deletion has made it difficult to ch...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/515520

    authors： Shapira SK,McCaskill C,Northrup H,Spikes AS,Elder FF,Sutton VR,Korenberg JR,Greenberg F,Shaffer LG

    更新日期：1997-09-01 00:00:00

  • Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.

    abstract：:It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Shashi V,Golden WL,Allinson PS,Blanton SH,von Kap-Herr C,Kelly TE

    更新日期：1996-06-01 00:00:00

  • Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.

    abstract：:We report an unusual molecular defect in the mitochondrially encoded ND1 subunit of NADH ubiquinone oxidoreductase (complex I) in a patient with mitochondrial myopathy and isolated complex I deficiency. The mutation is an inversion of seven nucleotides within the ND1 gene, which maintains the reading frame. The invers...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302927

    authors： Musumeci O,Andreu AL,Shanske S,Bresolin N,Comi GP,Rothstein R,Schon EA,DiMauro S

    更新日期：2000-06-01 00:00:00

  • Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

    abstract：:In healthy individuals, fumarylacetoacetase (FAH) activities close to the range found in hereditary tyrosinemia type 1 (HT1) patients indicated the existence of a "pseudodeficiency" allele. In an individual homozygous for pseudodeficiency of FAH and in three HT1 families also carrying the pseudodeficiency allele, west...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Rootwelt H,Brodtkorb E,Kvittingen EA

    更新日期：1994-12-01 00:00:00

  • The role of community review in evaluating the risks of human genetic variation research.

    abstract：:The practicality and moral value of community review of human genetic research has become a focus of debate. Examples from two Native American communities are used to address four aspects of that debate: (1) the value of community review in larger, geographically dispersed populations; (2) the identification of cultur...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302415

    authors： Foster MW,Sharp RR,Freeman WL,Chino M,Bernsten D,Carter TH

    更新日期：1999-06-01 00:00:00

  • Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome.

    abstract：:Using sequence-tagged sites we have performed deletion mapping of the Y chromosome in sex-reversed female patients with a Y chromosome and gonadoblastoma. The GBY gene (gonadoblastoma locus on the Y chromosome) was sublocalized to a small region near the centromere of the Y chromosome. We estimate the size of the GBY ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Tsuchiya K,Reijo R,Page DC,Disteche CM

    更新日期：1995-12-01 00:00:00

  • Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.

    abstract：:X chromosome inactivation results in the random transcriptional silencing of one of the two X chromosomes early in female development. After random inactivation, certain deleterious X-linked mutations can create a selective disadvantage for cells in which the mutation is on the active X chromosome, leading to X inacti...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302286

    authors： Plenge RM,Tranebjaerg L,Jensen PK,Schwartz C,Willard HF

    更新日期：1999-03-01 00:00:00

  • Linkage analysis of chromosome 17 markers in British and South African families with neurofibromatosis type I.

    abstract：:Nine markers from the pericentromeric region of chromosome 17 were typed in 16 British and five South African families with neurofibromatosis type 1 (NF1). The markers--p17H8, pHHH202, and EW204--were linked to NF1 at recombination fractions less than 1%. No evidence of locus heterogeneity was detected. Inspection of ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Mathew CG,Thorpe K,Easton DF,Chin KS,Jadayel D,Ponder M,Moore G,Wallis CE,Slater CP,De Jong G

    更新日期：1989-01-01 00:00:00

  • Genetic disease in offspring of long-term survivors of childhood and adolescent cancer.

    abstract：:Numerous case series have addressed the concern that cancer therapy may damage germ cells, leading to clinical disease in offspring of survivors. None has documented an increased risk. However, the methodological problems of small series make it difficult to draw firm conclusions regarding the potential of cancer trea...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301677

    authors： Byrne J,Rasmussen SA,Steinhorn SC,Connelly RR,Myers MH,Lynch CF,Flannery J,Austin DF,Holmes FF,Holmes GE,Strong LC,Mulvihill JJ

    更新日期：1998-01-01 00:00:00

  • Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.

    abstract：:Aplastic anemia (AA) and myelodysplasia (MDS) are forms of bone marrow failure that are often part of the same progressive underlying disorder. While most cases are simplex and idiopathic, some show a clear pattern of inheritance; therefore, elucidating the underlying genetic cause could lead to a greater understandin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.03.020

    authors： Kirwan M,Walne AJ,Plagnol V,Velangi M,Ho A,Hossain U,Vulliamy T,Dokal I

    更新日期：2012-05-04 00:00:00

  • Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease.

    abstract：:A modified alpha-N-acetylgalactosaminidase (NAGA) with alpha-galactosidase A (GLA)-like substrate specificity was designed on the basis of structural studies and was produced in Chinese hamster ovary cells. The enzyme acquired the ability to catalyze the degradation of 4-methylumbelliferyl-alpha-D-galactopyranoside. I...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.09.016

    authors： Tajima Y,Kawashima I,Tsukimura T,Sugawara K,Kuroda M,Suzuki T,Togawa T,Chiba Y,Jigami Y,Ohno K,Fukushige T,Kanekura T,Itoh K,Ohashi T,Sakuraba H

    更新日期：2009-11-01 00:00:00

  • A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

    abstract：:A single base mutation at nucleotide position 3460 (nt 3460) in the ND1 gene in human mtDNA was found to be associated with Leber hereditary optic neuroretinopathy (LHON). The G-to-A mutation converts an alanine to a threonine at the 52d codon of the gene. The mutation also abolishes an AhaII restriction site and thus...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Huoponen K,Vilkki J,Aula P,Nikoskelainen EK,Savontaus ML

    更新日期：1991-06-01 00:00:00

  • Molecular characterization of de novo secondary trisomy 13.

    abstract：:Unbalanced Robertsonian translocations are a significant cause of mental retardation and fetal wastage. The majority of homologous rearrangements of chromosome 21 in Down syndrome have been shown to be isochromosomes. Aside from chromosome 21, very little is known about other acrocentric homologous rearrangements. In ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Shaffer LG,McCaskill C,Han JY,Choo KH,Cutillo DM,Donnenfeld AE,Weiss L,Van Dyke DL

    更新日期：1994-11-01 00:00:00

  • A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease.

    abstract：:Prior to the implementation of predictive-testing programs for Huntington disease (HD), significant concern was raised concerning the likelihood of catastrophic events (CEs), particularly in those persons receiving an increased-risk result. We have investigated the frequency of CEs-that is, suicide, suicide attempt, a...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1086/302374

    authors： Almqvist EW,Bloch M,Brinkman R,Craufurd D,Hayden MR

    更新日期：1999-05-01 00:00:00

  • Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome.

    abstract：:Nondisjunction in trisomy 21 has traditionally been studied by cytogenetic heteromorphisms. Those studies assumed no crossing-over on the short arm of chromosome 21. Recently, increased accuracy of detection of the origin of nondisjunction has been demonstrated by DNA polymorphism analysis. We describe a comparative s...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Peterson MB,Frantzen M,Antonarakis SE,Warren AC,Van Broeckhoven C,Chakravarti A,Cox TK,Lund C,Olsen B,Poulsen H

    更新日期：1992-09-01 00:00:00

  • Meta-analysis of correlated traits via summary statistics from GWASs with an application in hypertension.

    abstract：:Genome-wide association studies (GWASs) have identified many genetic variants underlying complex traits. Many detected genetic loci harbor variants that associate with multiple-even distinct-traits. Most current analysis approaches focus on single traits, even though the final results from multiple traits are evaluate...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.ajhg.2014.11.011

    authors： Zhu X,Feng T,Tayo BO,Liang J,Young JH,Franceschini N,Smith JA,Yanek LR,Sun YV,Edwards TL,Chen W,Nalls M,Fox E,Sale M,Bottinger E,Rotimi C,COGENT BP Consortium.,Liu Y,McKnight B,Liu K,Arnett DK,Chakravati A,Coo

    更新日期：2015-01-08 00:00:00