Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography.

Abstract:

:Y chromosome haplotypes are particularly useful in deciphering human evolutionary history because they accentuate the effects of drift, migration, and range expansion. Significant acceleration of Y biallelic marker discovery and subsequent typing involving heteroduplex detection has been achieved by implementing an innovative and cost-efficient method called denaturing high-performance liquid chromatography (DHPLC). The power of the method resides in its sensitivity and ability to rapidly compare amplified sequences in an automated manner. We have determined the allelic states of 22 Y polymorphisms; 19 of which are unreported, in 718 diverse extant chromosomes; established haplotype frequencies; and deduced a phylogeny. All major geographic regions, including Eurasia, are characterized by mutations reflecting episodes of genetic drift and expansion. Most biallelic markers are localized regionally. However, some show wider dispersal and designate older, core haplotypes. One transversion defines a major haplogroup that distinguishes a previously unknown deep, apparently non-African branch. It provides evidence of an ancient bottleneck event. It is now possible to anticipate the inevitable detailed reconstruction of human Y chromosome genealogy based on several tens to even hundreds of these important polymorphisms.

journal_name

Genome Res

journal_title

Genome research

authors

Underhill PA,Jin L,Lin AA,Mehdi SQ,Jenkins T,Vollrath D,Davis RW,Cavalli-Sforza LL,Oefner PJ

doi

10.1101/gr.7.10.996

subject

Has Abstract

pub_date

1997-10-01 00:00:00

pages

996-1005

issue

10

eissn

1088-9051

issn

1549-5469

journal_volume

7

pub_type

信件
  • A Plasmodium gene family encoding Maurer's cleft membrane proteins: structural properties and expression profiling.

    abstract::Upon invasion of the erythrocyte cell, the malaria parasite remodels its environment; in particular, it establishes a complex membrane network, which connects the parasitophorous vacuole to the host plasma membrane and is involved in protein transport and trafficking. We have identified a novel subtelomeric gene famil...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.2126104

    authors: Sam-Yellowe TY,Florens L,Johnson JR,Wang T,Drazba JA,Le Roch KG,Zhou Y,Batalov S,Carucci DJ,Winzeler EA,Yates JR 3rd

    更新日期:2004-06-01 00:00:00

  • Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution.

    abstract::The human pseudoautosomal region 1 (PAR1) is essential for meiotic pairing and recombination, and its deletion causes male sterility. Comparative studies of human and mouse pseudoautosomal genes are valuable in charting the evolution of this interesting region, but have been limited by the paucity of genes conserved b...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.197001

    authors: Gianfrancesco F,Sanges R,Esposito T,Tempesta S,Rao E,Rappold G,Archidiacono N,Graves JA,Forabosco A,D'Urso M

    更新日期:2001-12-01 00:00:00

  • Prioritizing candidate disease genes by network-based boosting of genome-wide association data.

    abstract::Network "guilt by association" (GBA) is a proven approach for identifying novel disease genes based on the observation that similar mutational phenotypes arise from functionally related genes. In principle, this approach could account even for nonadditive genetic interactions, which underlie the synergistic combinatio...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.118992.110

    authors: Lee I,Blom UM,Wang PI,Shim JE,Marcotte EM

    更新日期:2011-07-01 00:00:00

  • Genome-wide regulatory complexity in yeast promoters: separation of functionally conserved and neutral sequence.

    abstract::To gauge the complexity of gene regulation in yeast, it is essential to know how much promoter sequence is functional. Conservation across species can be a sensitive means of detecting functional sequences, provided that the significance of conservation can be accurately calibrated with the local neutral mutation rate...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.3243305

    authors: Chin CS,Chuang JH,Li H

    更新日期:2005-02-01 00:00:00

  • BRAFV600E remodels the melanocyte transcriptome and induces BANCR to regulate melanoma cell migration.

    abstract::Aberrations of protein-coding genes are a focus of cancer genomics; however, the impact of oncogenes on expression of the ~50% of transcripts without protein-coding potential, including long noncoding RNAs (lncRNAs), has been largely uncharacterized. Activating mutations in the BRAF oncogene are present in >70% of mel...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.140061.112

    authors: Flockhart RJ,Webster DE,Qu K,Mascarenhas N,Kovalski J,Kretz M,Khavari PA

    更新日期:2012-06-01 00:00:00

  • Reconstructing large regions of an ancestral mammalian genome in silico.

    abstract::It is believed that most modern mammalian lineages arose from a series of rapid speciation events near the Cretaceous-Tertiary boundary. It is shown that such a phylogeny makes the common ancestral genome sequence an ideal target for reconstruction. Simulations suggest that with methods currently available, we can exp...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.2800104

    authors: Blanchette M,Green ED,Miller W,Haussler D

    更新日期:2004-12-01 00:00:00

  • Phylogeny-wide analysis of social amoeba genomes highlights ancient origins for complex intercellular communication.

    abstract::Dictyostelium discoideum (DD), an extensively studied model organism for cell and developmental biology, belongs to the most derived group 4 of social amoebas, a clade of altruistic multicellular organisms. To understand genome evolution over long time periods and the genetic basis of social evolution, we sequenced th...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.121137.111

    authors: Heidel AJ,Lawal HM,Felder M,Schilde C,Helps NR,Tunggal B,Rivero F,John U,Schleicher M,Eichinger L,Platzer M,Noegel AA,Schaap P,Glöckner G

    更新日期:2011-11-01 00:00:00

  • Modeling kinetic rate variation in third generation DNA sequencing data to detect putative modifications to DNA bases.

    abstract::Current generation DNA sequencing instruments are moving closer to seamlessly sequencing genomes of entire populations as a routine part of scientific investigation. However, while significant inroads have been made identifying small nucleotide variation and structural variations in DNA that impact phenotypes of inter...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.136739.111

    authors: Schadt EE,Banerjee O,Fang G,Feng Z,Wong WH,Zhang X,Kislyuk A,Clark TA,Luong K,Keren-Paz A,Chess A,Kumar V,Chen-Plotkin A,Sondheimer N,Korlach J,Kasarskis A

    更新日期:2013-01-01 00:00:00

  • A generic, cost-effective, and scalable cell lineage analysis platform.

    abstract::Advances in single-cell genomics enable commensurate improvements in methods for uncovering lineage relations among individual cells. Current sequencing-based methods for cell lineage analysis depend on low-resolution bulk analysis or rely on extensive single-cell sequencing, which is not scalable and could be biased ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.202903.115

    authors: Biezuner T,Spiro A,Raz O,Amir S,Milo L,Adar R,Chapal-Ilani N,Berman V,Fried Y,Ainbinder E,Cohen G,Barr HM,Halaban R,Shapiro E

    更新日期:2016-11-01 00:00:00

  • DNA methylation at hepatitis B viral integrants is associated with methylation at flanking human genomic sequences.

    abstract::Integration of DNA viruses into the human genome plays an important role in various types of tumors, including hepatitis B virus (HBV)-related hepatocellular carcinoma. However, the molecular details and clinical impact of HBV integration on either human or HBV epigenomes are unknown. Here, we show that methylation of...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.175240.114

    authors: Watanabe Y,Yamamoto H,Oikawa R,Toyota M,Yamamoto M,Kokudo N,Tanaka S,Arii S,Yotsuyanagi H,Koike K,Itoh F

    更新日期:2015-03-01 00:00:00

  • High-resolution quantification of specific mRNA levels in human brain autopsies and biopsies.

    abstract::Quantification of mRNA levels in human cortical brain biopsies and autopsies was performed using a fluorogenic 5' nuclease assay. The reproducibility of the assay using replica plates was 97%-99%. Relative quantities of mRNA from 16 different genes were evaluated using a statistical approach based on ANCOVA analysis. ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.10.8.1219

    authors: Castensson A,Emilsson L,Preece P,Jazin EE

    更新日期:2000-08-01 00:00:00

  • Gene loss and movement in the maize genome.

    abstract::Maize (Zea mays L. ssp. mays), one of the most important agricultural crops in the world, originated by hybridization of two closely related progenitors. To investigate the fate of its genes after tetraploidization, we analyzed the sequence of five duplicated regions from different chromosomal locations. We also compa...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.2701104

    authors: Lai J,Ma J,Swigonová Z,Ramakrishna W,Linton E,Llaca V,Tanyolac B,Park YJ,Jeong OY,Bennetzen JL,Messing J

    更新日期:2004-10-01 00:00:00

  • A benchmark for methods in reverse engineering and model discrimination: problem formulation and solutions.

    abstract::A benchmark problem is described for the reconstruction and analysis of biochemical networks given sampled experimental data. The growth of the organisms is described in a bioreactor in which one substrate is fed into the reactor with a given feed rate and feed concentration. Measurements for some intracellular compon...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.1226004

    authors: Kremling A,Fischer S,Gadkar K,Doyle FJ,Sauter T,Bullinger E,Allgöwer F,Gilles ED

    更新日期:2004-09-01 00:00:00

  • Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping.

    abstract::Chromosome 21 represents approximately 1% of the human genome, and its long arm has been estimated to contain 600-1000 genes. A dense linkage map and almost complete physical maps based on yeast artificial chromosomes (YACs) and cosmids have been developed. We have used exon trapping to identify portions of genes from...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.6.8.747

    authors: Chen H,Chrast R,Rossier C,Morris MA,Lalioti MD,Antonarakis SE

    更新日期:1996-08-01 00:00:00

  • A network of transcriptionally coordinated functional modules in Saccharomyces cerevisiae.

    abstract::Recent computational and experimental work suggests that functional modules underlie much of cellular physiology and are a useful unit of cellular organization from the perspective of systems biology. Because interactions among modules can give rise to higher-level properties that are essential to cellular function, a...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.3847105

    authors: Petti AA,Church GM

    更新日期:2005-09-01 00:00:00

  • Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing.

    abstract::Genomic imprinting is a developmentally important mechanism that involves both differential DNA methylation and allelic histone modifications. Through detailed comparative characterization, a large imprinted domain mapping to chromosome 7q21 in humans and proximal chromosome 6 in mice was redefined. This domain is org...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.077115.108

    authors: Monk D,Wagschal A,Arnaud P,Müller PS,Parker-Katiraee L,Bourc'his D,Scherer SW,Feil R,Stanier P,Moore GE

    更新日期:2008-08-01 00:00:00

  • Pervasive, genome-wide positive selection leading to functional divergence in the bacterial genus Campylobacter.

    abstract::An open question in bacterial genomics is the role that adaptive evolution of the core genome plays in diversification and adaptation of bacterial species, and how this might differ between groups of bacteria occupying different environmental circumstances. The genus Campylobacter encompasses several important human a...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.089250.108

    authors: Lefébure T,Stanhope MJ

    更新日期:2009-07-01 00:00:00

  • Genome dynamics in aging mice.

    abstract::Random spontaneous genome rearrangements are difficult to detect in vivo, especially in postmitotic tissues. Using a lacZ-plasmid reporter mouse model, we have previously presented evidence for the accumulation of large genome rearrangements in various tissues, including postmitotic tissues, during aging. These rearra...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.125502

    authors: Dollé ME,Vijg J

    更新日期:2002-11-01 00:00:00

  • CADLIVE dynamic simulator: direct link of biochemical networks to dynamic models.

    abstract::We have developed the CADLIVE (Computer-Aided Design of LIVing systEms) Simulator that provided a rule-based automatic way to convert biochemical network maps into dynamic models, which enables simulating their dynamics without going through all of the reactions down to the details of exact kinetic parameters. The sim...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.3463705

    authors: Kurata H,Masaki K,Sumida Y,Iwasaki R

    更新日期:2005-04-01 00:00:00

  • Sequential ChIP-bisulfite sequencing enables direct genome-scale investigation of chromatin and DNA methylation cross-talk.

    abstract::Cross-talk between DNA methylation and histone modifications drives the establishment of composite epigenetic signatures and is traditionally studied using correlative rather than direct approaches. Here, we present sequential ChIP-bisulfite-sequencing (ChIP-BS-seq) as an approach to quantitatively assess DNA methylat...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.133728.111

    authors: Brinkman AB,Gu H,Bartels SJ,Zhang Y,Matarese F,Simmer F,Marks H,Bock C,Gnirke A,Meissner A,Stunnenberg HG

    更新日期:2012-06-01 00:00:00

  • Genes and transposons are differentially methylated in plants, but not in mammals.

    abstract::DNA methylation is found in many eukaryotes, but its function is still controversial. We have studied the methylation of plant and animal genomes using a PCR-based technique amenable for high throughput. Repetitive elements are methylated in both organisms, but whereas most mammalian exons are methylated, plant exons ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.1784803

    authors: Rabinowicz PD,Palmer LE,May BP,Hemann MT,Lowe SW,McCombie WR,Martienssen RA

    更新日期:2003-12-01 00:00:00

  • An analysis of the gene complement of a marsupial, Monodelphis domestica: evolution of lineage-specific genes and giant chromosomes.

    abstract::The newly sequenced genome of Monodelphis domestica not only provides the out-group necessary to better understand our own eutherian lineage, but it enables insights into the innovative biology of metatherians. Here, we compare Monodelphis with Homo sequences from alignments of single nucleotides, genes, and whole chr...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.6093907

    authors: Goodstadt L,Heger A,Webber C,Ponting CP

    更新日期:2007-07-01 00:00:00

  • Dynamic effects of interacting genes underlying rice flowering-time phenotypic plasticity and global adaptation.

    abstract::The phenotypic variation of living organisms is shaped by genetics, environment, and their interaction. Understanding phenotypic plasticity under natural conditions is hindered by the apparently complex environment and the interacting genes and pathways. Herein, we report findings from the dissection of rice flowering...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.255703.119

    authors: Guo T,Mu Q,Wang J,Vanous AE,Onogi A,Iwata H,Li X,Yu J

    更新日期:2020-05-01 00:00:00

  • Most parsimonious reconciliation in the presence of gene duplication, loss, and deep coalescence using labeled coalescent trees.

    abstract::Accurate gene tree-species tree reconciliation is fundamental to inferring the evolutionary history of a gene family. However, although it has long been appreciated that population-related effects such as incomplete lineage sorting (ILS) can dramatically affect the gene tree, many of the most popular reconciliation me...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.161968.113

    authors: Wu YC,Rasmussen MD,Bansal MS,Kellis M

    更新日期:2014-03-01 00:00:00

  • Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants.

    abstract::As part of a recent high-density linkage disequilibrium (LD) study of chromosome 20, we obtained genotypes for approximately 30,000 SNPs at a density of 1 SNP/2 kb on four different population samples (47 CEPH founders; 91 UK unrelateds [unrelated white individuals of western European ancestry]; 97 African Americans; ...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.4217605

    authors: Lawrence R,Evans DM,Morris AP,Ke X,Hunt S,Paolucci M,Ragoussis J,Deloukas P,Bentley D,Cardon LR

    更新日期:2005-11-01 00:00:00

  • Complex genomic rearrangements lead to novel primate gene function.

    abstract::Orthologous genes that maintain a single-copy status in a broad range of species may indicate a selection against gene duplication. If this is the case, then duplicates of such genes that do survive may have escaped the dosage control by rapid and sizable changes in their function. To test this hypothesis and to devel...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.3266405

    authors: Ciccarelli FD,von Mering C,Suyama M,Harrington ED,Izaurralde E,Bork P

    更新日期:2005-03-01 00:00:00

  • A comprehensive survey of 3' animal miRNA modification events and a possible role for 3' adenylation in modulating miRNA targeting effectiveness.

    abstract::Animal microRNA sequences are subject to 3' nucleotide addition. Through detailed analysis of deep-sequenced short RNA data sets, we show adenylation and uridylation of miRNA is globally present and conserved across Drosophila and vertebrates. To better understand 3' adenylation function, we deep-sequenced RNA after k...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.106054.110

    authors: Burroughs AM,Ando Y,de Hoon MJ,Tomaru Y,Nishibu T,Ukekawa R,Funakoshi T,Kurokawa T,Suzuki H,Hayashizaki Y,Daub CO

    更新日期:2010-10-01 00:00:00

  • Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination.

    abstract::The detailed genomic organization of a gene-dense region at human chromosome 12p13, spanning 223 kb of contiguous sequence, was determined. This region is composed of 20 genes and several other expressed sequences. Experimental tools including RT-PCR and cDNA sequencing, combined with gene prediction programs, were ut...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.7.3.268

    authors: Ansari-Lari MA,Shen Y,Muzny DM,Lee W,Gibbs RA

    更新日期:1997-03-01 00:00:00

  • Sequence diversity and genomic organization of vomeronasal receptor genes in the mouse.

    abstract::The vomeronasal system of mice is thought to be specialized in the detection of pheromones. Two multigene families have been identified that encode proteins with seven putative transmembrane domains and that are expressed selectively in subsets of neurons of the vomeronasal organ. The products of these vomeronasal rec...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.10.12.1958

    authors: Del Punta K,Rothman A,Rodriguez I,Mombaerts P

    更新日期:2000-12-01 00:00:00

  • Gene expression profiling of single cells from archival tissue with laser-capture microdissection and Smart-3SEQ.

    abstract::RNA sequencing (RNA-seq) is a sensitive and accurate method for quantifying gene expression. Small samples or those whose RNA is degraded, such as formalin-fixed paraffin-embedded (FFPE) tissue, remain challenging to study with nonspecialized RNA-seq protocols. Here, we present a new method, Smart-3SEQ, that accuratel...

    journal_title:Genome research

    pub_type: 杂志文章

    doi:10.1101/gr.234807.118

    authors: Foley JW,Zhu C,Jolivet P,Zhu SX,Lu P,Meaney MJ,West RB

    更新日期:2019-11-01 00:00:00