当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Phylogeny of Y-chromosome haplogroup C3b-F1756, an important paternal lineage in Altaic-speaking populations.

Phylogeny of Y-chromosome haplogroup C3b-F1756, an important paternal lineage in Altaic-speaking populations.

Abstract：

:In previous studies, a specific paternal lineage with a null value for the Y-chromosome short tandem repeat (Y-STR) marker DYS448 was identified as common among Mongolic- and Turkic-speaking populations. This paternal lineage (temporarily named C3*-DYS448del) was determined to be M217+, M93-, P39-, M48-, M407-, and P53.1-, and its origin and phylogeny remain ambiguous. Here, we analyzed Y-chromosome sequences of 10 male that are related this paternal lineage and redefined it as C3b1a1a1a-F1756 (C3b-F1756). We generated a highly revised phylogenetic tree of haplogroup C3b-F1756, including 21 sub-clades and 360 non-private Y-chromosome polymorphisms. Additionally, we performed a comprehensive analysis of the C3*-DYS448del lineage in eastern Eurasia, including 18 270 samples from 297 populations. Whole Y-chromosome sequences, Y-STR haplotypes, and frequency data were used to generate a distribution map, a network, and age estimations for lineage C3*-DYS448del and its sub-lineages. Considering the historical records of the studied populations, we propose that two major sub-branches of C3b-F1756 may correspond to early expansions of ancestors of modern Mongolic- and Turkic-speaking populations. The large number of newly defined Y-chromosome polymorphisms and the revised phylogenetic tree for C3b-F1756 will assist in investigation of the early history of Altaic-speaking populations in the future.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Wei LH,Huang YZ,Yan S,Wen SQ,Wang LX,Du PX,Yao DL,Li SL,Yang YJ,Jin L,Li H

doi

10.1038/jhg.2017.60

subject

Has Abstract

pub_date

2017-10-01 00:00:00

pages

915-918

issue

10

eissn

1434-5161

issn

1435-232X

pii

jhg201760

journal_volume

62

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.

    abstract：:A wide range of phenotypes have been reported in autosomal recessive (AR) Charcot-Marie-Tooth disease (CMT) patients carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene, such as axonal, demyelinating, and intermediate forms of AR CMT. There have been very few reports of GDAP...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-008-0249-3

    authors： Chung KW,Kim SM,Sunwoo IN,Cho SY,Hwang SJ,Kim J,Kang SH,Park KD,Choi KG,Choi IS,Choi BO

    更新日期：2008-01-01 00:00:00

  • Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.

    abstract：:With congenital central hypoventilation syndrome (CCHS), most patients have a de novo 5-13 polyalanine expansion mutation in PHOX2B. We reported previously that de novo polyalanine expansion mutations were of paternal origin and were derived from unequal sister chromatid exchange during spermatogenesis in six and four...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.109

    authors： Arai H,Otagiri T,Sasaki A,Umetsu K,Hayasaka K

    更新日期：2010-01-01 00:00:00

  • High-resolution SNP map of ASPN, a susceptibility gene for osteoarthritis.

    abstract：:Osteoarthritis (OA) is a very common bone and joint disease characterized by breakdown of cartilage in the joint. We recently found that an aspartic-acid repeat polymorphism of the asporin gene (ASPN) on chromosome 9 is associated with susceptibility to OA in Japanese. We provide here a high-resolution single nucleoti...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0337-6

    authors： Iida A,Kizawa H,Nakamura Y,Ikegawa S

    更新日期：2006-01-01 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

  • Association of natural tooth loss with genetic variation at the human matrix Gla protein locus in elderly women.

    abstract：:Natural tooth loss represents a major medical issue within the elderly population, since it impairs masticatory function critical for oral intake of essential nutrition. Contribution of genetic factors has been implicated in the determination of natural tooth loss; degree of reduction in number of natural teeth remain...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0024-4

    authors： Hirano H,Ezura Y,Ishiyama N,Yamaguchi M,Nasu I,Yoshida H,Suzuki T,Hosoi T,Emi M

    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

  • Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.

    abstract：:Coding variants in both myocilin (MYOC) and optineurin (OPTN) are reported risk factors for primary open-angle glaucoma (POAG) in many populations. This study investigated the contribution of MYOC and OPTN coding variants in Hispanics of Mexican descent with and without POAG. We conducted a case-control study of unrel...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.91

    authors： McDonald KK,Abramson K,Beltran MA,Ramirez MG,Alvarez M,Ventura A,Santiago-Turla C,Schmidt S,Hauser MA,Allingham RR

    更新日期：2010-10-01 00:00:00

  • Sibling risk of pervasive developmental disorder estimated by means of an epidemiologic survey in Nagoya, Japan.

    abstract：:Broad-spectrum autism, referred to as pervasive developmental disorder (PDD), may be associated with genetic factors. We examined 241 siblings in 269 Japanese families with affected children. The sibling incidence of PDD was 10.0% whereas the prevalence of PDD in the general population in the same geographic region wa...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0392-7

    authors： Sumi S,Taniai H,Miyachi T,Tanemura M

    更新日期：2006-01-01 00:00:00

  • 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 g...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.66

    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

    更新日期：2012-08-01 00:00:00

  • Association between the PPARalpha-L162V polymorphism and components of the metabolic syndrome.

    abstract：:Genetic factors, alone or in interaction with components of the diet, are thought to be involved in the development of the metabolic syndrome. The objective of our study was first to compare the frequency of the peroxisome proliferator-activated receptor (PPAR)alpha-L162V polymorphism in a sample of men with and witho...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0177-9

    authors： Robitaille J,Brouillette C,Houde A,Lemieux S,Pérusse L,Tchernof A,Gaudet D,Vohl MC

    更新日期：2004-01-01 00:00:00

  • Genetic effects have a dominant role on poor responses to infant vaccination to hepatitis B virus.

    abstract：:The objective of this study was to investigate the overall contribution of genetic and environmental effects on poor response to hepatitis B virus (HBV) vaccination in Chinese infants. One-year-old healthy twins were recruited from child-care settings. Parental factors, neonates' condition at birth, postnatal infant f...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.18

    authors： Yan K,Cai W,Cao F,Sun H,Chen S,Xu R,Wei X,Shi X,Yan W

    更新日期：2013-05-01 00:00:00

  • Microsatellite data support subpopulation structuring among Basques.

    abstract：:Genomic diversity based on 13 short tandem repeat (STR) loci (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, TH01, TPOX, and CSF1PO) is reported for the first time in Basques from the provinces of Guipúzcoa and Navarre (Spain). STR data from previous studies on Basques from Alava and Viz...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0268-2

    authors： Pérez-Miranda AM,Alfonso-Sánchez MA,Kalantar A,García-Obregón S,de Pancorbo MM,Peña JA,Herrera RJ

    更新日期：2005-01-01 00:00:00

  • Regulation of LOXL2 and SERPINH1 by antitumor microRNA-29a in lung cancer with idiopathic pulmonary fibrosis.

    abstract：:Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive lung disease that is refractory to treatment and carries a high mortality rate. IPF is frequently associated with lung cancer. Identification of molecular targets involved in both diseases may elucidate novel molecular mechanisms contributing to their patho...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.99

    authors： Kamikawaji K,Seki N,Watanabe M,Mataki H,Kumamoto T,Takagi K,Mizuno K,Inoue H

    更新日期：2016-12-01 00:00:00

  • Adult onset limb-girdle type mitochondrial myopathy with a mitochondrial DNA np8291 A-to-G substitution.

    abstract：:We analyzed mitochondrial DNA (mtDNA) from 7 patients in four families with adult onset limb-girdle type mitochondrial myopathy to clarify their genetic background. The patients, 2 men and 5 women, showed common clinical features, characterized by isolated skeletal myopathy, high serum creatine kinase level, ragged-re...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050145

    authors： Hirata K,Nakagawa M,Higuchi I,Hashimoto K,Hanada K,Takahashi K,Niiyama T,Izumi K,Sakoda S,Yamada H,Osame M

    更新日期：1999-01-01 00:00:00

  • Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene.

    abstract：:Deletion of exons 45-55 (del45-55) in the Duchenne muscular dystrophy gene (DMD) has gained particular interest in the field of molecular therapy, because it causes a milder phenotype than DMD, and therefore, may represent a good candidate for the goal of a multiple exon-skipping strategy. We have precisely characteri...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2008.8

    authors： Miyazaki D,Yoshida K,Fukushima K,Nakamura A,Suzuki K,Sato T,Takeda S,Ikeda S

    更新日期：2009-02-01 00:00:00

  • A two-stage case-control association study of the dihydropyrimidinase-like 2 gene (DPYSL2) with schizophrenia in Japanese subjects.

    abstract：:We examined the association of schizophrenia (SCZ) and dihydropyrimidinase-like 2 (DPYSL2), also known as collapsin response mediator protein 2, which regulates axonal growth and branching. We genotyped 20 tag single nucleotide polymorphisms (SNPs) in 1464 patients and 1310 controls. There were two potential associati...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.38

    authors： Koide T,Aleksic B,Ito Y,Usui H,Yoshimi A,Inada T,Suzuki M,Hashimoto R,Takeda M,Iwata N,Ozaki N

    更新日期：2010-07-01 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

  • Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias.

    abstract：:We hypothesized that single-nucleotide polymorphisms (SNPs) of genes involved in environmental endocrine disruptors (EEDs) metabolism might influence the risk of male genital malformations. In this study, we explored for association between 384 SNPs in 15 genes (AHR, AHRR, ARNT, ARNT2, NR1I2, RXRA, RXRB, RXRG, CYP1A1,...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.48

    authors： Qin XY,Kojima Y,Mizuno K,Ueoka K,Massart F,Spinelli C,Zaha H,Okura M,Yoshinaga J,Yonemoto J,Kohri K,Hayashi Y,Ogata T,Sone H

    更新日期：2012-07-01 00:00:00

  • Association of an intragenic microsatellite marker in the CC16 gene with asthma in the Indian population.

    abstract：:The gene for Clara cell secretory protein (CC16) is an ideal candidate for investigating genetic predisposition to asthma because of its role in the airway as an anti-inflammatory molecule, differences in its levels between asthmatics and healthy controls, and its genetic location (11q13). We investigated the associat...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0206-8

    authors： Sharma S,Ghosh B

    更新日期：2004-01-01 00:00:00

  • CRISPR/Cas9 library screening for drug target discovery.

    abstract：:CRISPR/Cas9-based tools have rapidly developed in recent years. These include CRISPR-based gene activation (CRISPRa) or inhibition (CRISPRi), for which there are libraries. CRISPR libraries for loss of function have been widely used to identify new biological mechanisms, such as drug resistance and cell survival signa...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/s10038-017-0376-9

    authors： Kurata M,Yamamoto K,Moriarity BS,Kitagawa M,Largaespada DA

    更新日期：2018-02-01 00:00:00

  • The genomic structure and expression of MJD, the Machado-Joseph disease gene.

    abstract：:Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder that is clinically characterized by cerebellar ataxia and various associated symptoms. The disease is caused by an unstable expansion of the CAG repeat in the MJD gene. This gene is mapped to chromosome 14q32.1. To determine its genomic s...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170060

    authors： Ichikawa Y,Goto J,Hattori M,Toyoda A,Ishii K,Jeong SY,Hashida H,Masuda N,Ogata K,Kasai F,Hirai M,Maciel P,Rouleau GA,Sakaki Y,Kanazawa I

    更新日期：2001-01-01 00:00:00

  • Robust imaging and gene delivery to study human lymphoblastoid cell lines.

    abstract：:Lymphoblastoid cell lines (LCLs) have been by far the most prevalent cell type used to study the genetics underlying normal and disease-relevant human phenotypic variation, across personal to epidemiological scales. In contrast, only few studies have explored the use of LCLs in functional genomics and mechanistic stud...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0483-2

    authors： Jolly LA,Sun Y,Carroll R,Homan CC,Gecz J

    更新日期：2018-09-01 00:00:00

  • Investigation of novel variations of ORAI1 gene and their association with Kawasaki disease.

    abstract：:ORAI1 encodes a calcium channel essential in the store-operated calcium entry mechanism. A previous genetic association study identified a rare in-frame insertion variant of ORAI1 conferring Kawasaki disease (KD). To deepen our understanding of the involvement of rare variants of ORAI1 in KD pathogenesis, we investiga...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-019-0588-2

    authors： Thiha K,Mashimo Y,Suzuki H,Hamada H,Hata A,Hara T,Tanaka T,Ito K,Onouchi Y,Japan Kawasaki Disease Genome Consortium.

    更新日期：2019-06-01 00:00:00

  • Tissue-specific differentially methylated regions of the human VASA gene are potentially associated with maturation arrest phenotype in the testis.

    abstract：:Numerous CpG islands containing tissue-specific differentially methylated regions (TDMRs) are potential methylation sites in normal cells and tissues. The VASA (also known as DDX4) gene is believed to be under the control of TDMRs. A total of 131 male patients with idiopathic azoospermia or severe oligospermia were ev...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.59

    authors： Sugimoto K,Koh E,Sin HS,Maeda Y,Narimoto K,Izumi K,Kobori Y,Kitamura E,Nagase H,Yoshida A,Namiki M

    更新日期：2009-08-01 00:00:00

  • Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

    abstract：:The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, no pathogenic mutations were identified in six families (5.2%). I...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-019-0599-z

    authors： Kobayashi M,Ohashi T,Kaneshiro E,Higuchi T,Ida H

    更新日期：2019-07-01 00:00:00

  • Revisited HLA and non-HLA genetics of Takayasu arteritis--where are we?

    abstract：:Takayasu arteritis (TAK) is an immune-mediated vasculitis affecting large arteries first reported in 1908 from Japan. Case reports of familial onset of TAK from Japan and other countries indicated genetic contribution to TAK onset beyond ethnicity. Genetic studies of TAK have been performed mainly addressing the human...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2015.87

    authors： Terao C

    更新日期：2016-01-01 00:00:00

  • Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population.

    abstract：:Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase ( MTHFR) gene is a risk factor for neural tube defects (NTDs) in many populations, including Italians. Another common mutation on the MTHFR gene, A1298C, has also been described as a risk mutation. Furthermore, several studies have suggeste...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200043

    authors： De Marco P,Calevo MG,Moroni A,Arata L,Merello E,Finnell RH,Zhu H,Andreussi L,Cama A,Capra V

    更新日期：2002-01-01 00:00:00

  • Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.

    abstract：:We present a 3⅓-year-old girl with severe Charcot-Marie-Tooth disease type 1 (Dejerine-Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22 (PMP22) and a deletion of exon 5 in the other PMP22 allele. Haplotype analyses and sequence determination revealed a 11.2...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.106

    authors： Abe A,Nakamura K,Kato M,Numakura C,Honma T,Seiwa C,Shirahata E,Itoh A,Kishikawa Y,Hayasaka K

    更新日期：2010-11-01 00:00:00

  • A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.

    abstract：:X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SL...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0443-x

    authors： Deng Y,Niu Z,Fan L,Ling J,Chen H,Cai X,Mei L,He C,Zhang X,Wen J,Li M,Li W,Li T,Sang S,Liu Y,Feng Y

    更新日期：2018-06-01 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