Absence of the Asian-specific region V mitochondrial marker in Native Beringians.

Abstract:

:The Asian-specific 9-bp deletion between the genes for mitochondrial cytochrome oxidase II and lysine transfer RNA has been used to trace aboriginal human movements out of Southeast Asia and into portions of the South Pacific. Although it has been used to estimate the number of independent lineages that occur in the New World, it has not been studied in native peoples of the Beringian region. Thus, we have used PCR to amplify and compare the lengths of DNA segments surrounding this deletion in native peoples of Beringia and the adjacent regions, as well as natives of the Altai Mountains of Southwestern Siberia. Of the 176 individuals analyzed here, the deletion was found in only 3 of 25 individuals from the Ust-Kan region of the Altai Mountains. We comment on the distribution of this marker and on potential relationships between Beringians and other Native American groups in which this marker has been surveyed. One Chukchi possessed three copies of the 9-bp sequence, which suggests (1) that the number of copies of this sequence in humans may be more variable than had been believed and (2) that a mechanism of replication based on tandem duplication may be a potential explanation for the origin of this length mutation in humans.

journal_name

Am J Hum Genet

authors

Shields GF,Hecker K,Voevoda MI,Reed JK

subject

Has Abstract

pub_date

1992-04-01 00:00:00

pages

758-65

issue

4

eissn

0002-9297

issn

1537-6605

journal_volume

50

pub_type

杂志文章
  • Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.

    abstract::Benign infantile familial convulsions is an autosomal dominant disorder characterized by nonfebrile seizures, with the first attack occurring at age 3-12 mo. It is one of the rare forms of epilepsy that are inherited as monogenic Mendelian traits, thus providing a powerful tool for mapping genes involved in epileptic ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/514877

    authors: Szepetowski P,Rochette J,Berquin P,Piussan C,Lathrop GM,Monaco AP

    更新日期:1997-10-01 00:00:00

  • Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

    abstract::Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2016.09.010

    authors: Di Donato N,Jean YY,Maga AM,Krewson BD,Shupp AB,Avrutsky MI,Roy A,Collins S,Olds C,Willert RA,Czaja AM,Johnson R,Stover JA,Gottlieb S,Bartholdi D,Rauch A,Goldstein A,Boyd-Kyle V,Aldinger KA,Mirzaa GM,Nissen A,Br

    更新日期:2016-11-03 00:00:00

  • Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.

    abstract::Niemann-Pick type II disease is an autosomal recessive disorder characterized by a defect in intracellular trafficking of sterols. We have determined the intron/exon boundaries of eight exons from the conserved 3' portion of NPC1, the gene associated with most cases of the disease. SSCP analyses were designed for thes...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/302620

    authors: Greer WL,Dobson MJ,Girouard GS,Byers DM,Riddell DC,Neumann PE

    更新日期:1999-11-01 00:00:00

  • Pre-Caucasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisms.

    abstract::About 70 individuals from Punjab were examined for some mtDNA polymorphisms, namely, the RFLPs of the six classical enzymes (HpaI, BamHI, HaeII, MspI, AvaII, and Hin-cII) and for the sites AluI(7,025), DdeI(10,394), and AluI(10,397). The AluI(7,025) polymorphic site was also investigated in 96 Indians from Uttar Prade...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Passarino G,Semino O,Bernini LF,Santachiara-Benerecetti AS

    更新日期:1996-10-01 00:00:00

  • Genomewide scan of hoarding in sib pairs in which both sibs have Gilles de la Tourette syndrome.

    abstract::A genome scan of the hoarding phenotype (a component of obsessive-compulsive disorder) was conducted on 77 sib pairs collected by the Tourette Syndrome Association International Consortium for Genetics (TSAICG). All sib pairs were concordant for a diagnosis of Gilles de la Tourette syndrome (GTS). However, the analyse...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/339520

    authors: Zhang H,Leckman JF,Pauls DL,Tsai CP,Kidd KK,Campos MR,Tourette Syndrome Association International Consortium for Genetics.

    更新日期:2002-04-01 00:00:00

  • Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.

    abstract::Abdominal aortic aneurysm (AAA) is a common cause of morbidity and mortality and has a significant heritability. We carried out a genome-wide association discovery study of 1866 patients with AAA and 5435 controls and replication of promising signals (lead SNP with a p value < 1 × 10(-5)) in 2871 additional cases and ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2011.10.002

    authors: Bown MJ,Jones GT,Harrison SC,Wright BJ,Bumpstead S,Baas AF,Gretarsdottir S,Badger SA,Bradley DT,Burnand K,Child AH,Clough RE,Cockerill G,Hafez H,Scott DJ,Futers S,Johnson A,Sohrabi S,Smith A,Thompson MM,van Bockxm

    更新日期:2011-11-11 00:00:00

  • Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene.

    abstract::The genetic map in the region of human chromosome 7 that harbors the gene for cystic fibrosis (CF) has been refined by multilocus linkage studies in an expanded database including a large set of normal families. Six loci known to be linked to CF were examined: MET, an oncogene; COL1A2, collagen, TCRB, T-cell-receptor ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Lathrop GM,Farrall M,O'Connell P,Wainwright B,Leppert M,Nakamura Y,Lench N,Kruyer H,Dean M,Park M

    更新日期:1988-01-01 00:00:00

  • Association of attention-deficit disorder and the dopamine transporter gene.

    abstract::Attention-deficit hyperactivity disorder (ADHD) has been shown to be familial and heritable, in previous studies. As with most psychiatric disorders, examination of pedigrees has not revealed a consistent Mendelian mode of transmission. The response of ADHD patients to medications that inhibit the dopamine transporter...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Cook EH Jr,Stein MA,Krasowski MD,Cox NJ,Olkon DM,Kieffer JE,Leventhal BL

    更新日期:1995-04-01 00:00:00

  • Hereditary polyposis coli. III. Genetic and evolutionary fitness.

    abstract::The numbers of progeny born to 355 patients with heritable polyposis of the colon and to 315 related, but normal, subjects, all old enough to have completed their families, are presented, as well as data on 432 subjects still young enough to have more children. Two main indices are used: mean family size ("genetic fit...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Murphy EA,Krush AJ,Dietz M,Rohde CA

    更新日期:1980-09-01 00:00:00

  • Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24.

    abstract::We present the findings of a large linkage study of bipolar affective disorder (BPAD) that involved genomewide analysis of 52 families (448 genotyped individuals) of Spanish, Romany, and Bulgarian descent and further fine mapping of the 1p34-p36, 4q28-q31, and 6q15-q24 regions. An additional sample of 56 German famili...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/498619

    authors: Schumacher J,Kaneva R,Jamra RA,Diaz GO,Ohlraun S,Milanova V,Lee YA,Rivas F,Mayoral F,Fuerst R,Flaquer A,Windemuth C,Gay E,Sanz S,González MJ,Gil S,Cabaleiro F,del Rio F,Perez F,Haro J,Kostov C,Chorbov V,Nikolo

    更新日期:2005-12-01 00:00:00

  • Mismatches in genetic markers in a large family study.

    abstract::The Hawaii Family Study of Cognition provided an opportunity to investigate the frequency and implications of non-agreement, or mismatches, between observed and expected genetic marker phenotypes of husbands, wives, and children. Mismatch data from 68 families in which one or both spouses were known not to be a biolog...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Ashton GC

    更新日期:1980-07-01 00:00:00

  • A complete genome screen in sib pairs affected by Gilles de la Tourette syndrome. The Tourette Syndrome Association International Consortium for Genetics.

    abstract::Gilles de la Tourette syndrome is a neuropsychiatric disorder characterized by waxing and waning multiple motor and phonic tics with a complex mode of inheritance. Previous attempts, which used large multigenerational families to localize susceptibility loci, have been unsuccessful. In this report, the results of the ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/302613

    authors:

    更新日期:1999-11-01 00:00:00

  • Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

    abstract::Cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. By using homozygosity mapping in an individual with autosomal-recessive (ar) RP from a consanguineous family, we identified three sizeable homozygous regions, together encompassing 46 Mb...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2011.11.015

    authors: Estrada-Cuzcano A,Neveling K,Kohl S,Banin E,Rotenstreich Y,Sharon D,Falik-Zaccai TC,Hipp S,Roepman R,Wissinger B,Letteboer SJ,Mans DA,Blokland EA,Kwint MP,Gijsen SJ,van Huet RA,Collin RW,Scheffer H,Veltman JA,Zrenne

    更新日期:2012-01-13 00:00:00

  • The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

    abstract::Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohor...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2019.05.015

    authors: Pehlivan D,Bayram Y,Gunes N,Coban Akdemir Z,Shukla A,Bierhals T,Tabakci B,Sahin Y,Gezdirici A,Fatih JM,Gulec EY,Yesil G,Punetha J,Ocak Z,Grochowski CM,Karaca E,Albayrak HM,Radhakrishnan P,Erdem HB,Sahin I,Yildirim

    更新日期:2019-07-03 00:00:00

  • A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.

    abstract::Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Klein C,Schilling K,Saunders-Pullman RJ,Garrels J,Breakefield XO,Brin MF,deLeon D,Doheny D,Fahn S,Fink JS,Forsgren L,Friedman J,Frucht S,Harris J,Holmgren G,Kis B,Kurlan R,Kyllerman M,Lang AE,Leung J,Raymond D,R

    更新日期:2000-11-01 00:00:00

  • A positive modifier of spinal muscular atrophy in the SMN2 gene.

    abstract::Spinal muscular atrophy (SMA) is a common autosomal-recessive motor neuron disease caused by the homozygous loss of the SMN1 gene. A nearly identical gene, SMN2, has been shown to decrease the severity of SMA in a dose-dependent manner. However SMN2 is not the sole phenotypic modifier, because there are discrepant SMA...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2009.08.002

    authors: Prior TW,Krainer AR,Hua Y,Swoboda KJ,Snyder PC,Bridgeman SJ,Burghes AH,Kissel JT

    更新日期:2009-09-01 00:00:00

  • Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

    abstract::Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. Here, we ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/339986

    authors: Richard G,Rouan F,Willoughby CE,Brown N,Chung P,Ryynänen M,Jabs EW,Bale SJ,DiGiovanna JJ,Uitto J,Russell L

    更新日期:2002-05-01 00:00:00

  • Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

    abstract::Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic acetylcholine receptor (AChR) antibodies from myasthenic mothers. We performed linkage studies in families with Escobar syndro...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/506257

    authors: Hoffmann K,Muller JS,Stricker S,Megarbane A,Rajab A,Lindner TH,Cohen M,Chouery E,Adaimy L,Ghanem I,Delague V,Boltshauser E,Talim B,Horvath R,Robinson PN,Lochmüller H,Hübner C,Mundlos S

    更新日期:2006-08-01 00:00:00

  • Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

    abstract::Fibroblasts from a man with a mild form of osteogenesis imperfecta (OI) and from his son with perinatal lethal OI (OI type II) produced normal and abnormal type I procollagen molecules. The abnormal molecules synthesized by both cell strains contained one or two pro alpha 1(I) chains in which the glycine at position 5...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Wallis GA,Starman BJ,Zinn AB,Byers PH

    更新日期:1990-06-01 00:00:00

  • Genetic drift in sex-linked lethal disorders.

    abstract::A model is considered to calculate effects of genetic drift on the expected proportion of new mutants amongst males affected by a sex-linked recessive lethal. We show how to relate the number of cases of the disorder in males to the expected deviations from the deterministic value of the proportion of new mutants. For...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Slatkin M,Thomson G,Sawyer S

    更新日期:1979-03-01 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

  • Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility.

    abstract::Fertilization is a fundamental process of development and is a prerequisite for successful human reproduction. In mice, although several receptor proteins have been shown to play important roles in the process of fertilization, only three genes have been shown to cause fertilization failure and infertility when delete...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2018.02.015

    authors: Sang Q,Li B,Kuang Y,Wang X,Zhang Z,Chen B,Wu L,Lyu Q,Fu Y,Yan Z,Mao X,Xu Y,Mu J,Li Q,Jin L,He L,Wang L

    更新日期:2018-04-05 00:00:00

  • A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11.

    abstract::Attention-deficit/hyperactivity disorder (ADHD [MIM 143465]) is a common, highly heritable neurobehavioral disorder of childhood onset, characterized by hyperactivity, impulsivity, and/or inattention. As part of an ongoing study of the genetic etiology of ADHD, we have performed a genomewide linkage scan in 204 nuclea...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/375139

    authors: Ogdie MN,Macphie IL,Minassian SL,Yang M,Fisher SE,Francks C,Cantor RM,McCracken JT,McGough JJ,Nelson SF,Monaco AP,Smalley SL

    更新日期:2003-05-01 00:00:00

  • Network analyses of Y-chromosomal types in Europe, northern Africa, and western Asia reveal specific patterns of geographic distribution.

    abstract::In a study of 908 males from Europe, northern Africa, and western Asia, the variation of four Y-linked dinucleotide microsatellites was analyzed within three "frames" that are defined by mutations that are nonrecurrent, or nearly so. The rapid generation and extinction of new dinucleotide length variants causes the ha...

    journal_title:American journal of human genetics

    pub_type: 杂志文章,多中心研究

    doi:10.1086/301999

    authors: Malaspina P,Cruciani F,Ciminelli BM,Terrenato L,Santolamazza P,Alonso A,Banyko J,Brdicka R,García O,Gaudiano C,Guanti G,Kidd KK,Lavinha J,Avila M,Mandich P,Moral P,Qamar R,Mehdi SQ,Ragusa A,Stefanescu G,Caraghin M

    更新日期:1998-09-01 00:00:00

  • A population-based study of autosomal-recessive disease-causing mutations in a founder population.

    abstract::The decreasing cost of whole-genome and whole-exome sequencing has resulted in a renaissance for identifying Mendelian disease mutations, and for the first time it is possible to survey the distribution and characteristics of these mutations in large population samples. We conducted carrier screening for all autosomal...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2012.08.007

    authors: Chong JX,Ouwenga R,Anderson RL,Waggoner DJ,Ober C

    更新日期:2012-10-05 00:00:00

  • Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

    abstract::Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located on chromosome 5q21. We ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Stella A,Resta N,Gentile M,Susca F,Mareni C,Montera MP,Guanti G

    更新日期:1993-11-01 00:00:00

  • A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

    abstract::Studies in mouse and chick have shown that the 5' HoxD genes play major roles in the development of the limbs and genitalia. In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (SPD). Haploinsufficiency for the 5' HOXD genes has recently been proposed to underlie the monodact...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/338921

    authors: Goodman FR,Majewski F,Collins AL,Scambler PJ

    更新日期:2002-02-01 00:00:00

  • miR-196a ameliorates phenotypes of Huntington disease in cell, transgenic mouse, and induced pluripotent stem cell models.

    abstract::Huntington disease (HD) is a dominantly inherited neurodegenerative disorder characterized by dysregulation of various genes. Recently, microRNAs (miRNAs) have been reported to be involved in this dysregulation, suggesting that manipulation of appropriate miRNA regulation may have a therapeutic benefit. Here, we repor...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2013.05.025

    authors: Cheng PH,Li CL,Chang YF,Tsai SJ,Lai YY,Chan AW,Chen CM,Yang SH

    更新日期:2013-08-08 00:00:00

  • Congenital deficiency of a 20-kDa subunit of mitochondrial complex I in fibroblasts.

    abstract::The first component of the mitochondrial electron-transport chain is especially complex, consisting of 19 nuclear and seven mitochondrion-encoded subunits. Accordingly, a wide range of clinical manifestations are produced by the various mutations occurring in human populations. In this study, we analyze the subunit st...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Slipetz DM,Goodyer PR,Rozen R

    更新日期:1991-06-01 00:00:00

  • Family-based tests of association and linkage that use unaffected sibs, covariates, and interactions.

    abstract::We extend the methodology for family-based tests of association and linkage to allow for both variation in the phenotypes of subjects and incorporation of covariates into general-score tests of association. We use standard association models for a phenotype and any number of predictors. We then construct a score stati...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/302782

    authors: Lunetta KL,Faraone SV,Biederman J,Laird NM

    更新日期:2000-02-01 00:00:00