当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification.

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification.

Abstract：

:Local genomic architecture, such as segmental duplications (SDs), can induce copy number variations (CNVs) hotspots in the human genome, many of which manifest as genomic disorders. Significant technological advances have been achieved for genome-wide CNV investigations, but these costly methods are not suitable for genotyping certain disease-associated CNVs or other loci of interest in populations. Recently, two independent studies showed that the murine meiosis expressed gene 1 (Meig1) was critical to spermatogenesis. We found that the human orthologue MEIG1 is flanked by an SD pair, between which non-allelic homologous recombination (NAHR) can cause recurrent CNVs. To study this potential CNV hotspot and its role in spermatogenesis, we developed a new CNV genotyping method, AccuCopy, based on multiplex competitive amplification to investigate 320 patients with spermatogenic impairment and 93 healthy controls. Three MEIG1 duplications (two in patients and one in controls) were identified, whereas no deletion was found. As NAHR results in more recurrent deletions than duplications at a locus, the over representation of recurrent MEIG1 duplications suggests a potential purifying selection operating on this hotspot, possibly via fecundity. We also showed that AccuCopy is an efficient and reliable method for multiplex CNV genotyping.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Du R,Lu C,Jiang Z,Li S,Ma R,An H,Xu M,An Y,Xia Y,Jin L,Wang X,Zhang F

doi

10.1038/jhg.2012.66

subject

Has Abstract

pub_date

2012-08-01 00:00:00

pages

545-51

issue

8

eissn

1434-5161

issn

1435-232X

pii

jhg201266

journal_volume

57

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Regions of homozygosity in three Southeast Asian populations.

    abstract：:The genomes of outbred populations were first shown in 2006 to contain regions of homozygosity (ROHs) of several megabases. Further studies have also investigated the characteristics of ROHs in healthy individuals in various populations but there are no studies on Singapore populations to date. This study aims to iden...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.132

    authors： Teo SM,Ku CS,Salim A,Naidoo N,Chia KS,Pawitan Y

    更新日期：2012-02-01 00:00:00

  • Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients.

    abstract：:Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive neuropathy caused by SH3TC2 mutations, characterized by spine deformities and cranial nerve involvement. This study identified four CMT4C families with compound heterozygous SH3TC2 mutations from 504 Korean demyelinating or intermediate CMT patients...

    journal_title：Journal of human genetics

    pub_type： 临床试验,杂志文章

    doi：10.1038/s10038-019-0636-y

    authors： Lee AJ,Nam SH,Park JM,Kanwal S,Choi YJ,Lee HJ,Lee KS,Lee JE,Park JS,Choi BO,Chung KW

    更新日期：2019-09-01 00:00:00

  • A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.

    abstract：:We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HEC...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2017.53

    authors： Kato K,Miya F,Hori I,Ieda D,Ohashi K,Negishi Y,Hattori A,Okamoto N,Kato M,Tsunoda T,Yamasaki M,Kanemura Y,Kosaki K,Saitoh S

    更新日期：2017-09-01 00:00:00

  • A genetic-phenotypic classification for syndromic micrognathia.

    abstract：:Micrognathia is a common craniofacial deformity which represents hypoplastic development of the mandible, accompanied by retrognathia and consequent airway problems. Usually, micrognathia is accompanied by multiple systematic defects, known as syndromic micrognathia, and is in close association with genetic factors. N...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-019-0630-4

    authors： Chen Q,Zhao Y,Qian Y,Lu C,Shen G,Dai J

    更新日期：2019-09-01 00:00:00

  • Linkage disequilibrium and haplotype analysis among ten single-nucleotide polymorphisms of interleukin 11 identified by sequencing of the gene.

    abstract：:Interleukin (IL11) is a member of the interleukin 6 (IL6)-related cytokine subfamily, which stimulates T cell-dependent development of immunoglobulin-producing B cells. IL11 is also an important paracrine regulator of bone metabolism that induces formation of osteoclasts. In the work reported here, we sequenced the en...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170052

    authors： Shinohara Y,Ezura Y,Iwasaki H,Nakazawa I,Ishida R,Kodaira M,Kajita M,Shiba T,Emi M

    更新日期：2001-01-01 00:00:00

  • Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?

    abstract：:Spinocerebellar ataxias (SCAs) are a heterogeneous group of disorders with almost 30 subtypes. The prevalence and relative frequency of each subtype vary among different populations. In this article, we report the relative frequency of six SCA subtypes in the Thai population and attempt to explain the observed pattern...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.27

    authors： Sura T,Eu-Ahsunthornwattana J,Youngcharoen S,Busabaratana M,Dejsuphong D,Trachoo O,Theerasasawat S,Tunteeratum A,Noparutchanodom C,Tunlayadechanont S

    更新日期：2009-05-01 00:00:00

  • Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.

    abstract：:Pericentric inversions are among the known polymorphisms detected in the general population at a frequency of 1-2%. Despite their generally benign nature, pericentric inversions affect the reproductive potential of carriers by increasing the risk for unbalanced live-born offspring, miscarriages, or other fertility pro...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-0769-z

    authors： Sismani C,Rapti SM,Iliopoulou P,Spring A,Neroutsou R,Lagou M,Robola M,Tsitsopoulos E,Kousoulidou L,Alexandrou A,Papaevripidou I,Theodosiou A,Syrrou M,Fuchs S,Hempel M,Huhle D,Liehr T,Ziegler M,Duesberg M,Velissariou

    更新日期：2020-09-01 00:00:00

  • Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).

    abstract：:Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal, recessively inherited disease caused by mutations in the MLC1 gene. Most of the previously published studies have been carried out in ethnic populations other than the Chinese. In this study, the analysis of clinical features and MLC1 mu...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.146

    authors： Wang J,Shang J,Wu Y,Gu Q,Xiong H,Ding C,Wang L,Gao Z,Wu X,Jiang Y

    更新日期：2011-02-01 00:00:00

  • The role of a common TNNT2 polymorphism in cardiac hypertrophy.

    abstract：:We found a five-basepair insertion/deletion polymorphism in intron 3 of TNNT2, one of the genes responsible for hypertrophic cardiomyopathy. These five bases may be part of an intronic polypyrimidine tract sequence that may affect splicing. The purpose of the study was to examine the association of the polymorphism wi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0121-4

    authors： Komamura K,Iwai N,Kokame K,Yasumura Y,Kim J,Yamagishi M,Morisaki T,Kimura A,Tomoike H,Kitakaze M,Miyatake K

    更新日期：2004-01-01 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

  • Unique origin of Andaman Islanders: insight from autosomal loci.

    abstract：:Our mtDNA and Y chromosome studies lead to the conclusion that the Andamanese "Negrito" mtDNA lineages have survived in the Andaman Islands in complete genetic isolation from other South and Southeast Asian populations since the initial settlement of the region by the out-of-Africa migration. In order to obtain a robu...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0026-0

    authors： Thangaraj K,Chaubey G,Reddy AG,Singh VK,Singh L

    更新日期：2006-01-01 00:00:00

  • Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.

    abstract：:Glutathione synthetase deficiency is a rare autosomal recessive disorder resulting in low levels of glutathione and an increased susceptibility to oxidative stress. Patients with glutathione synthetase deficiency typically present in the neonatal period with hemolytic anemia, metabolic acidosis and neurological impair...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.20

    authors： Atwal PS,Medina CR,Burrage LC,Sutton VR

    更新日期：2016-07-01 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

  • Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.

    abstract：:We examined 136 patients with mitochondrial DNA (mtDNA) deletion. Clinical diagnoses included chronic progressive external ophthalmoplegia (94 patients); Kearns-Sayre syndrome (KSS; 33 patients); Pearson's marrow-pancreas syndrome (six patients); and Leigh syndrome, Reye-like syndrome, and mitochondrial myopathy, ence...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-008-0289-8

    authors： Yamashita S,Nishino I,Nonaka I,Goto YI

    更新日期：2008-01-01 00:00:00

  • A novel sequence variant in SFRP4 causing Pyle disease.

    abstract：:Pyle disease (PYL) is an extremely rare disorder of irregular development of long bone. Recently, homozygous mutations in secreted frizzled-related protein 4 gene (SFRP4) gene were found to underlie this condition. Sequencing of coding regions of SFRP4 gene from an 11-year-old female with PYL was performed. A novel ho...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.166

    authors： Galada C,Shah H,Shukla A,Girisha KM

    更新日期：2017-04-01 00:00:00

  • Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy.

    abstract：:Dent's disease (DD) involves nephrocalcinosis, urolithiasis, hypercalciuria, LMW proteinuria, and renal failure in various combinations. Males are affected. It is caused by mutations in the chloride channel CLCN5 gene. It has been suggested that DD is underdiagnosed, occurring in less overt forms, apparently without f...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0317-x

    authors： Tosetto E,Graziotto R,Artifoni L,Nachtigal J,Cascone C,Conz P,Piva M,Dell'Aquila R,De Paoli Vitali E,Citron L,Nalesso F,Antonello A,Vertolli U,Zagatti R,Lupo A,D'Angelo A,Anglani F,Gambaro G

    更新日期：2006-01-01 00:00:00

  • A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.

    abstract：:Leigh syndrome is one of the most common subtypes of mitochondrial disease. Mutations in encoding genes of oxidative phosphorylation complexes have been frequently reported, of which, MTATP6 was one of the most frequently reported genes for Leigh syndrome. In this study, by using next-generation sequencing targeted to...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0505-0

    authors： Lou X,Shi H,Wen S,Li Y,Wei X,Xie J,Ma L,Yang Y,Fang H,Lyu J

    更新日期：2018-12-01 00:00:00

  • Identification of an autosomal dominant locus for intracranial aneurysm through a model-based family collection in a geographically limited area.

    abstract：:Intracranial aneurysm (IA) is characterized by an abnormal bulging of one of the arteries in the brain and is heavily affected by genetic factors. Although IA is a very serious disease because of its severity and prevalence in the general public, the gene causing IA has not yet been identified due mainly to the lack o...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.27

    authors： Kim CJ,Park SS,Lee HS,Chung HJ,Choi W,Chung JH,Kim JM,Hong ST

    更新日期：2011-06-01 00:00:00

  • A unique demographic history exists for the MAO-A gene in Polynesians.

    abstract：:Variation in the human monoamine oxidase A (MAO-A) gene can influence neurotransmittor levels and is thought to have a role in many behavioral traits. The genetic architecture of MAO-A is known to vary across different geographic subgroups. Previous studies have reported evidence for positive selection within the MAO-...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.19

    authors： Eccles DA,Macartney-Coxson D,Chambers GK,Lea RA

    更新日期：2012-05-01 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

  • Assessment of the contribution of the LOC387715 gene polymorphism in a family with exudative age-related macular degeneration and heterozygous CFH variant (Y402H).

    abstract：:Age-related macular degeneration (AMD) is a common cause of visual impairment in the elderly population in developed countries. The etiology of AMD is not completely understood but environmental and genetic factors have been implicated in the disease. Recently it has been documented that variations in the complement f...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0120-y

    authors： Shastry BS

    更新日期：2007-01-01 00:00:00

  • Identification of novel candidate loci for anorexia nervosa at 1q41 and 11q22 in Japanese by a genome-wide association analysis with microsatellite markers.

    abstract：:The Japanese Genetic Research Group for Eating Disorders (JGRED) is a multisite collaborative study group that was organized for the systematic recruitment of patients with an eating disorder for the purpose of genetic study in Japan. We conducted a genome-wide case-control association study using 23 465 highly polymo...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1038/jhg.2009.74

    authors： Nakabayashi K,Komaki G,Tajima A,Ando T,Ishikawa M,Nomoto J,Hata K,Oka A,Inoko H,Sasazuki T,Japanese Genetic Research Group for Eating Disorders (JGRED).,Shirasawa S

    更新日期：2009-09-01 00:00:00

  • "Distribution of paternal lineages in Mestizo populations throughout Mexico: an in silico study based on Y-STR haplotypes".

    abstract：:The Mexican-Mestizo population arose following European contact with the Americas due to the admixture of principally Spaniards, Native Americans, and Africans around 500 years ago. Because the paternal lineage distribution of the Mexican population has been poorly investigated, this study inferred the haplogroups of ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00824-7

    authors： Aguilar-Velázquez JA,Rangel-Villalobos H

    更新日期：2021-03-01 00:00:00

  • Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.

    abstract：:Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050064

    authors： Mizugishi K,Yamanaka K,Kuwajima K,Kondo I

    更新日期：1998-01-01 00:00:00

  • Overestimated frequency of a possible emphysema-susceptibility allele when microsomal epoxide hydrolase is genotyped by the conventional polymerase chain reaction-based method.

    abstract：:A recent association study suggested that the His113 variant of microsomal epoxide hydrolase (mEPHX) may confer a risk for development of emphysema, presumably by increasing susceptibility to smoking injury. Before considering a possible role of this enzyme in pulmonary disease, we attempted to characterize the geneti...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170116

    authors： Keicho N,Emi M,Kajita M,Matsushita I,Nakata K,Azuma A,Ohishi N,Kudoh S

    更新日期：2001-01-01 00:00:00

  • Preferential reduction of dicentrics in reciprocal exchanges due to the combination of the size of broken chromosome segments by radiation.

    abstract：:Induction rates of the dicentrics and translocations involving chromosomes 2 and 4 in peripheral lymphocytes irradiated with X-rays at a dose of 3 Gy were examined using a conventional Giemsa staining method and a chromosome painting method. In total, 228 reciprocal exchanges detected in 982 metaphases were classified...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0071-x

    authors： Zhang W,Hayata I

    更新日期：2003-01-01 00:00:00

  • Genetic polymorphism 609C>T in NAD(P)H:quinone oxidoreductase 1 enhances the risk of proximal colon cancer.

    abstract：UNLABELLED:Gastrointestinal (GI) cancer is responsible for the majority of deaths among all types of cancer. Lifestyle factors may not only be the main risk factor for GI cancer but reactive oxygen species (ROS) may also be involved. The single-nucleotide polymorphisms (SNPs) 609C>T (rs1800566) and 465C>T (rs1131341) i...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.38

    authors： Freriksen JJ,Salomon J,Roelofs HM,Te Morsche RH,van der Stappen JW,Dura P,Witteman BJ,Lacko M,Peters WH

    更新日期：2014-07-01 00:00:00

  • Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.

    abstract：:Ectopic periarticular calcifications associated with elevated levels of serum phosphate represent the principal clinical features of hyperphosphatemic familial tumoral calcinosis (HFTC), a rare autosomal recessive metabolic disorder. The disease can be caused by recessive mutations in at least two different genes: Gal...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0126-5

    authors： Barbieri AM,Filopanti M,Bua G,Beck-Peccoz P

    更新日期：2007-01-01 00:00:00

  • Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes.

    abstract：:DNA-repair pathways are critical for maintaining the integrity of the genetic material by protecting against mutations due to exposure-induced damages or replication errors. Polymorphisms in the corresponding genes may be relevant in genetic epidemiology by modifying individual cancer susceptibility or therapeutic res...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0097-0

    authors： Mathonnet G,Labuda D,Meloche C,Wambach T,Krajinovic M,Sinnett D

    更新日期：2003-01-01 00:00:00

  • Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

    abstract：:A few mutations in the gene encoding the gamma 2 subunit of the gamma-aminobutyric acid receptor type A (GABRG2) have been reported in various types of epilepsy. The aim of this study is to investigate the role of GABRG2 in the pathogenesis of childhood epilepsy in a large Japanese cohort. Genetic analysis of GABRG2 w...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.47

    authors： Shi X,Huang MC,Ishii A,Yoshida S,Okada M,Morita K,Nagafuji H,Yasumoto S,Kaneko S,Kojima T,Hirose S

    更新日期：2010-06-01 00:00:00