Allelic structures at hypervariable minisatellite B6.7 in Japanese show population specificity.

Abstract:

:Human minisatellite B6.7 shows extensive allele length and structural variability in north Europeans. We analysed this locus in the Japanese population. Allele size distributions showed that Japanese retain extensive allele length variability but have significantly smaller alleles compared with north Europeans. In contrast, there is very little variation in flanking DNA, with only one single-nucleotide polymorphism (SNP) near the minisatellite. Ninety-two Japanese alleles were further characterised by minisatellite variant repeat mapping by polymerase chain reaction (MVR-PCR). These alleles showed a wide variety of internal MVR structures, despite their relative shortness, with most alleles observed only once in the sample. The true heterozygosity is estimated at 99.95%, with well in excess of 2000 different alleles existing in the Japanese population. Dot matrix analysis showed that groups of related alleles sharing structural motifs could be identified within Japanese and in north Europeans, and that these groups are population specific with no examples of significant similarity between any Japanese and north European alleles. Minisatellite B6.7 therefore shows huge allele variability and fast repeat turnover in Japanese as well as north European populations, and provides novel lineage markers for exploring very recent events in human population history.

journal_name

J Hum Genet

authors

Mizukoshi T,Tamaki K,Azumi J,Matsumoto H,Imai K,Jeffreys AJ

doi

10.1007/s100380200031

keywords:

subject

Has Abstract

pub_date

2002-01-01 00:00:00

pages

232-8

issue

5

eissn

1434-5161

issn

1435-232X

journal_volume

47

pub_type

杂志文章
  • A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.

    abstract::A 58 kb region on chromosome 9p21.3 has consistently shown strong association with coronary artery disease (CAD) in multiple genome-wide association studies in populations of European and East Asian ancestry. In this study, we sought to further characterize the role of genetic variants in 9p21.3 in African American in...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2010.171

    authors: Kral BG,Mathias RA,Suktitipat B,Ruczinski I,Vaidya D,Yanek LR,Quyyumi AA,Patel RS,Zafari AM,Vaccarino V,Hauser ER,Kraus WE,Becker LC,Becker DM

    更新日期:2011-03-01 00:00:00

  • Characterization of a VNTR polymorphism in the coding region of the CEL gene.

    abstract::Human carboxyl ester lipase (CEL) secreted by the pancreas into the duodenum is a glycoprotein playing an essential role in the intestinal processing of cholesterol and lipid-soluble vitamins. The gene encoding CEL was known to contain a tandemly repeated sequence of the 11-amino-acid motif in the C-terminal region. W...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380200027

    authors: Higuchi S,Nakamura Y,Saito S

    更新日期:2002-01-01 00:00:00

  • Characterization of genomic rearrangements of the alpha1-acid glycoprotein/orosomucoid gene in Ghanaians.

    abstract::In this study, the structure of the alpha1-acid glycoprotein (AGP), or orosomucoid (ORM), gene was investigated in a Ghanaian mother and her child, who shared an unusual variant, ORM1 S2(C), found by isoelectric focusing. Three remarkable changes of nucleotide sequence were observed: (1) The two ORM1 alleles, ORMI*S a...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380170023

    authors: Yuasa I,Nakamura H,Henke L,Henke J,Nakagawa M,Irizawa Y,Umetsu K

    更新日期:2001-01-01 00:00:00

  • A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers.

    abstract::Partner and localiser of BRCA2 forms part of a macromolecular complex with BRCA1 and BRCA2, which is critical for the repair of double-strand DNA breaks by homologous DNA recombination. Germline loss-of-function variants in the PALB2 gene may confer an increased lifetime risk of breast, pancreatic, ovarian and other c...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-019-0680-7

    authors: Janssen B,Bellis S,Koller T,Tischkowitz M,Liau SS

    更新日期:2020-01-01 00:00:00

  • Cloning and characterization of the murine P2XM receptor gene.

    abstract::We have isolated the murine counterpart of the human P2XM gene (mP2XM), a P2X purinoceptor that is expressed predominantly in skeletal muscle. The mP2XM gene, consisting of 12 exons that span 10 kb of genomic DNA, encodes a 379-amino-acid product with 83% identity to the human homologue. Two potential transmembrane do...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380050086

    authors: Nawa G,Urano T,Tokino T,Ochi T,Miyoshi Y

    更新日期:1998-01-01 00:00:00

  • Genetic diversity of disease-associated loci in Turkish population.

    abstract::Many consortia and international projects have investigated the human genetic variation of a large number of ethno-geographic groups. However, populations with peculiar genetic features, such as the Turkish population, are still absent in publically available datasets. To explore the genetic predisposition to health-r...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2015.8

    authors: Karaca S,Cesuroglu T,Karaca M,Erge S,Polimanti R

    更新日期:2015-04-01 00:00:00

  • Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

    abstract::Pseudoautosomal region 1 (PAR1) contains SHOX, in addition to seven highly conserved non-coding DNA elements (CNEs) with cis-regulatory activity. Microdeletions involving SHOX exons 1-6a and/or the CNEs result in idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). Here, we report six rare copy-numbe...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2015.53

    authors: Fukami M,Naiki Y,Muroya K,Hamajima T,Soneda S,Horikawa R,Jinno T,Katsumi M,Nakamura A,Asakura Y,Adachi M,Ogata T,Kanzaki S,Japanese SHOX study group.

    更新日期:2015-09-01 00:00:00

  • Association of a G994 --> T (Val279 --> Phe) polymorphism of the plasma platelet-activating factor acetylhydrolase gene with myocardial damage in Japanese patients with nonfamilial hypertrophic cardiomyopathy.

    abstract::Plasma platelet-activating factor acetylhydrolase (PAF-AH) acts as a key defense against oxidative stress by hydrolyzing PAF and oxidized phospholipids. Deficiency of the activity of this enzyme may thus potentially result in predisposition to myocardial damage. The possible role of the G994 (V allele) --> T (F allele...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380170042

    authors: Yamada Y,Ichihara S,Izawa H,Tanaka M,Yokota M

    更新日期:2001-01-01 00:00:00

  • Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

    abstract::Mature-onset diabetes of the young, type 2 (MODY2) is associated with mutations in the glucokinase (GCK) gene that result in impaired glucokinase activity. Although more than 200 inactivating GCK mutations have been reported, only less than 20% of these mutations have been functionally characterized. In this work, we ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-008-0271-5

    authors: Estalella I,Garcia-Gimeno MA,Marina A,Castaño L,Sanz P

    更新日期:2008-01-01 00:00:00

  • De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

    abstract::MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we rep...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审

    doi:10.1038/jhg.2016.54

    authors: Fujita A,Isidor B,Piloquet H,Corre P,Okamoto N,Nakashima M,Tsurusaki Y,Saitsu H,Miyake N,Matsumoto N

    更新日期:2016-09-01 00:00:00

  • Long-read sequencing for rare human genetic diseases.

    abstract::During the past decade, the search for pathogenic mutations in rare human genetic diseases has involved huge efforts to sequence coding regions, or the entire genome, using massively parallel short-read sequencers. However, the approximate current diagnostic rate is <50% using these approaches, and there remain many r...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审

    doi:10.1038/s10038-019-0671-8

    authors: Mitsuhashi S,Matsumoto N

    更新日期:2020-01-01 00:00:00

  • EED-associated overgrowth in a second male patient.

    abstract::Following our discovery that constitutional mutations in EED can cause overgrowth, we screened our cohort of patients with Weaver-like features for mutations in this gene. Here we describe a second patient with a different, rare and de novo mutation in EED. Phenotypic overlap with our first case of EED-associated over...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2016.51

    authors: Cohen AS,Gibson WT

    更新日期:2016-09-01 00:00:00

  • Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.

    abstract::Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing loss. However, the clinical and molecular spectrum of SLC12A2 disease ha...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-021-00904-2

    authors: Bilal Shamsi M,Saleh M,Almuntashri M,Alharby E,Samman M,Peake RWA,Al-Fadhli FM,Alasmari A,Faqeih EA,Almontashiri NAM

    更新日期:2021-01-27 00:00:00

  • Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.

    abstract::In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of primordial dwarfism. XRCC4 is indispensable for non-homologous end joining (NHEJ), the major pathway for repairing DNA double-strand breaks. As NHEJ is essential for V(D)J recomb...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审

    doi:10.1038/jhg.2016.46

    authors: Saito S,Kurosawa A,Adachi N

    更新日期:2016-08-01 00:00:00

  • GNE myopathy in Chinese population: hotspot and novel mutations.

    abstract::GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the bi-functional enzyme critical for sialic acid biosynthesis. In this study, we summarized the clinical features, pathological characteristics, and genetic profiles ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-018-0525-9

    authors: Chen Y,Xi J,Zhu W,Lin J,Luo S,Yue D,Cai S,Sun C,Zhao C,Mitsuhashi S,Nishino I,Xu M,Lu J

    更新日期:2019-01-01 00:00:00

  • Erratum to: Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.

    abstract::The name Fon-Jou Hsieh was inadvertently omitted from the list of authors. The name should be added as the third author of the article. ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,已发布勘误

    doi:10.1007/s10038-006-0367-8

    authors: Lai LP,Su YN,Hsieh FJ,Chiang FT,Juang JM,Liu YB,Ho YL,Chen WJ,Yeh SJ,Wang CC,Ko YL,Wu TJ,Ueng KC,Lei MH,Tsao HM,Chen SA,Lin TK,Wu MH,Lo HM,Huang SKS,Lin JL

    更新日期:2006-03-01 00:00:00

  • Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.

    abstract::Androgen insensitivy syndrome (AIS) is the most frequent cause of male pseudohermaphroditism resulting from target-organ resistance to androgen action. Individuals bearing the complete form of the disease (CAIS) present a female phenotype and a lack of pubic and axillary hair. In the present study, four 46,XY patients...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-003-0036-0

    authors: Vilchis F,Ramos L,Kofman-Alfaro S,Zenteno JC,Méndez JP,Chávez B

    更新日期:2003-01-01 00:00:00

  • Noncoding RNA and colorectal cancer: its epigenetic role.

    abstract::The use of novel sequencing and high-throughput techniques has become widespread, and are now readily available to obtain the comprehensive transcription profile of the human genome. Noncoding RNAs (ncRNAs) are transcripts that have no apparent protein-coding capacity, but they have important roles in human physiology...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审

    doi:10.1038/jhg.2016.66

    authors: Kita Y,Yonemori K,Osako Y,Baba K,Mori S,Maemura K,Natsugoe S

    更新日期:2017-01-01 00:00:00

  • Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones.

    abstract::Recently, pharmacological chaperone therapy for Pompe disease with small molecules such as imino sugars has attracted interest. But mutant acid α-glucosidase (GAA) species responsive to imino sugars are limited. To elucidate the characteristics of a mutant GAA responsive to imino sugars, we performed biochemical and s...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2011.36

    authors: Tajima Y,Saito S,Ohno K,Tsukimura T,Tsujino S,Sakuraba H

    更新日期:2011-06-01 00:00:00

  • A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.

    abstract::Essential hypersomnia (EHS) is a lifelong disorder characterized by excessive daytime sleepiness without cataplexy. EHS is associated with human leukocyte antigen (HLA)-DQB1*06:02, similar to narcolepsy with cataplexy (narcolepsy). Previous studies suggest that DQB1*06:02-positive and -negative EHS are different in te...

    journal_title:Journal of human genetics

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1038/s10038-018-0518-8

    authors: Miyagawa T,Khor SS,Toyoda H,Kanbayashi T,Imanishi A,Sagawa Y,Kotorii N,Kotorii T,Ariyoshi Y,Hashizume Y,Ogi K,Hiejima H,Kamei Y,Hida A,Miyamoto M,Ikegami A,Wada Y,Takami M,Higashiyama Y,Miyake R,Kondo H,Fujimura

    更新日期:2018-12-01 00:00:00

  • High prevalence of an anti-hypertriglyceridemic variant of the MLXIPL gene in Central Asia.

    abstract::MLXIPL is a transcription factor integral to the regulation of glycolysis and lipogenesis in the liver. Common variants of the MLXIPL gene (MLXIPL) are known to influence plasma triglyceride levels in people of European descent. As MLXIPL has a key role in energy storage, genetic variations of the MLXIPL may be releva...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2011.109

    authors: Nakayama K,Yanagisawa Y,Ogawa A,Ishizuka Y,Munkhtulga L,Charupoonphol P,Supannnatas S,Kuartei S,Chimedregzen U,Koda Y,Ishida T,Kagawa Y,Iwamoto S

    更新日期:2011-12-01 00:00:00

  • Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families.

    abstract::Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 are responsible for a large proportion of familial breast cancer cases, and therefore, BRCA1 and BRCA2 genetic testing has become increasingly common in clinical practice. However, variants of uncertain significance (VUS) have been detected in 16.3% of J...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2013.71

    authors: Kawaku S,Sato R,Song H,Bando Y,Arinami T,Noguchi E

    更新日期:2013-09-01 00:00:00

  • The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions.

    abstract::The scavenger receptor class B type 1 (SCARB1) gene is a key component in the reverse cholesterol transport pathway and thus plays an important role in lipid metabolism. Studies suggest that the SCARB1 gene may contribute to variation in plasma lipid levels at fasting; however, the results have been inconsistent, and ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-008-0302-2

    authors: Liu Y,Ordovas JM,Gao G,Province M,Straka RJ,Tsai MY,Lai CQ,Zhang K,Borecki I,Hixson JE,Allison DB,Arnett DK

    更新日期:2008-01-01 00:00:00

  • A novel expression system for genomic DNA loci using a human artificial chromosome vector with transformation-associated recombination cloning.

    abstract::Following the recent completion of the human genome sequence, genomics research has shifted its focus to understanding gene complexity, expression, and regulation. However, in order to investigate such issues, there is a need to develop a practical system for genomic DNA expression. Transformation-associated recombina...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-005-0300-6

    authors: Ayabe F,Katoh M,Inoue T,Kouprina N,Larionov V,Oshimura M

    更新日期:2005-01-01 00:00:00

  • Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion.

    abstract::Cystic fibrosis is a hereditary disease that mostly affects the sweat glands, respiratory system, digestive system, and reproductive system. Many and various types of mutations have been reported in CFTR in different ethnicities and countries/regions. Analysis of CFTR gene rearrangements is recommended in patients wit...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-020-00859-w

    authors: Duz MB,Ozyavuz Cubuk P

    更新日期:2021-03-01 00:00:00

  • Different contributions of ancient mitochondrial and Y-chromosomal lineages in 'Karretjie people' of the Great Karoo in South Africa.

    abstract::The Karretjie people of the South African Great Karoo are itinerants who subsist by sheep shearing. Although officially classified 'Coloured', they are aware of their Khoe and San roots. To investigate the maternal and paternal ancestries of the Karretjie people we analyzed their mitochondrial and Y-chromosome DNA var...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2011.71

    authors: Schlebusch CM,de Jongh M,Soodyall H

    更新日期:2011-09-01 00:00:00

  • Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.

    abstract::The 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA; Online Mendelian Inheritance in Man [OMIN] #117210) is one of the most common ADCAs in Japan. Previously, we had reported that the patients share a common haplotype by founder effect and that a C-to-T substitution (-16C>T) in the puratrophin-1 gene was...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-007-0154-1

    authors: Amino T,Ishikawa K,Toru S,Ishiguro T,Sato N,Tsunemi T,Murata M,Kobayashi K,Inazawa J,Toda T,Mizusawa H

    更新日期:2007-01-01 00:00:00

  • Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).

    abstract::Cumulative data obtained from two relatively large pedigrees of a unique reciprocal chromosomal translocation (RCT) t(1;11)(p36.22;q12.2) ascertained by three miscarriages (pedigree 1) and the birth of newborn with hydrocephalus and myelomeningocele (pedigree 2) were used to estimate recurrence risks for different pre...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2014.92

    authors: Midro AT,Panasiuk B,Stasiewicz-Jarocka B,Olszewska M,Wiland E,Myśliwiec M,Kurpisz M,Shaffer LG,Gajecka M

    更新日期:2014-12-01 00:00:00

  • Screening of genetic variations of SLC15A2, SLC22A1, SLC22A2 and SLC22A6 genes.

    abstract::A growing list of membrane-spanning proteins involved in the transport of a large variety of drugs has been recognized and characterized to include peptide and organic anion/cation transporters. Given such an important role of transporter genes in drug disposition process, the role of single-nucleotide polymorphisms (...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2011.77

    authors: Cheong HS,Kim HD,Na HS,Kim JO,Kim LH,Kim SH,Bae JS,Chung MW,Shin HD

    更新日期:2011-09-01 00:00:00

  • Novel locus for fibrinogen in 3' region of LEPR gene in island population of Vis (Croatia).

    abstract::Leptin, a possible mediator between energy homeostasis, inflammation and cardiovascular disease (CVD), acts via leptin receptors. We investigated association of single-nucleotide polymorphisms (SNPs) and haplotypes of the leptin receptor gene (LEPR) with several CVD risk factors: body mass index, waist circumference (...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2014.82

    authors: Tomas Ž,Petranović MZ,Škarić-Jurić T,Barešić A,Salihović MP,Narančić NS

    更新日期:2014-11-01 00:00:00