LIVIVO - Search results -

Search results

Result 1 - 10 of total 18

Search options

Article ; Online: Extending genome-wide association studies to copy-number variation.

McCarroll, Steven A

2008 Volume 17, Issue R2, Page(s) R135–42

Abstract: ... such investigations as an extension of genome-wide association studies (GWAS), enabled by innovations in the design ... Appreciating the contribution of human genome copy-number variation (CNV) to clinical phenotypes is ... the genomic locations and population-genetic properties of the CNVs that segregate in the human population. Extensions ...

Abstract	Appreciating the contribution of human genome copy-number variation (CNV) to clinical phenotypes is one of the compelling genetics challenges of the coming years. It is increasingly possible to pursue such investigations as an extension of genome-wide association studies (GWAS), enabled by innovations in the design and analysis of SNP (single nucleotide polymorphism) arrays and by progress in determining the genomic locations and population-genetic properties of the CNVs that segregate in the human population. Extensions of GWAS to CNV have already resulted in discoveries of both de novo and inherited CNV that are associated with risk of common disease. This review will discuss new approaches, recent findings and the analytical challenges involved in expanding GWAS to appreciate the contribution of CNV to human phenotypes.
MeSH term(s)	Disease/genetics ; Gene Dosage/genetics ; Genetic Predisposition to Disease/genetics ; Genetics, Population ; Genome-Wide Association Study ; Genotype ; Heredity ; Humans
Language	English
Publishing date	2008-10-15
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddn282
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3469: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Extensive sequence duplication in Arabidopsis revealed by pseudo-heterozygosity.

Jaegle, Benjamin / Pisupati, Rahul / Soto-Jiménez, Luz Mayela / Burns, Robin / Rabanal, Fernando A / Nordborg, Magnus

Genome biology

2023 Volume 24, Issue 1, Page(s) 44

Abstract: ... on such pseudo-heterozygosity in annotated genes, we use genome-wide association to map the position ... sequencing. The finding that 10% of annotated genes exhibit copy-number variation, and the realization ... number variation.: Results: The heterozygosity we observe consists of particular SNPs being ...

Abstract	Background: It is apparent that genomes harbor much structural variation that is largely undetected for technical reasons. Such variation can cause artifacts when short-read sequencing data are mapped to a reference genome. Spurious SNPs may result from mapping of reads to unrecognized duplicated regions. Calling SNP using the raw reads of the 1001 Arabidopsis Genomes Project we identified 3.3 million (44%) heterozygous SNPs. Given that Arabidopsis thaliana (A. thaliana) is highly selfing, and that extensively heterozygous individuals have been removed, we hypothesize that these SNPs reflected cryptic copy number variation. Results: The heterozygosity we observe consists of particular SNPs being heterozygous across individuals in a manner that strongly suggests it reflects shared segregating duplications rather than random tracts of residual heterozygosity due to occasional outcrossing. Focusing on such pseudo-heterozygosity in annotated genes, we use genome-wide association to map the position of the duplicates. We identify 2500 putatively duplicated genes and validate them using de novo genome assemblies from six lines. Specific examples included an annotated gene and nearby transposon that transpose together. We also demonstrate that cryptic structural variation produces highly inaccurate estimates of DNA methylation polymorphism. Conclusions: Our study confirms that most heterozygous SNP calls in A. thaliana are artifacts and suggest that great caution is needed when analyzing SNP data from short-read sequencing. The finding that 10% of annotated genes exhibit copy-number variation, and the realization that neither gene- nor transposon-annotation necessarily tells us what is actually mobile in the genome suggests that future analyses based on independently assembled genomes will be very informative.
MeSH term(s)	Humans ; Arabidopsis/genetics ; Sequence Analysis, DNA ; Genome-Wide Association Study ; DNA Copy Number Variations ; Genome, Plant ; Polymorphism, Single Nucleotide
Language	English
Publishing date	2023-03-09
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2040529-7
ISSN	1474-760X ; 1474-760X
ISSN (online)	1474-760X
ISSN	1474-760X
DOI	10.1186/s13059-023-02875-3
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Extensive Copy Number Variation Explains Genome Size Variation in the Unicellular Zygnematophycean Alga, Closterium peracerosum-strigosum-littorale Complex.

Kawaguchi, Yawako W / Tsuchikane, Yuki / Tanaka, Keisuke / Taji, Teruaki / Suzuki, Yutaka / Toyoda, Atsushi / Ito, Motomi / Watano, Yasuyuki / Nishiyama, Tomoaki / Sekimoto, Hiroyuki / Tsuchimatsu, Takashi

Genome biology and evolution

2023 Volume 15, Issue 8

Abstract: ... genomes revealed that genome size variation is largely attributable to genome-wide copy number variation ... a small number of species. This study identified a more than 2-fold heritable genome size variation ... with extensive genome size variation in the C. psl. complex, despite its possible detrimental effects. ...

Abstract	Genome sizes are known to vary within and among closely related species, but the knowledge about genomic factors contributing to the variation and their impacts on gene functions is limited to only a small number of species. This study identified a more than 2-fold heritable genome size variation among the unicellular Zygnematophycean alga, Closterium peracerosum-strigosum-littorale (C. psl.) complex, based on short-read sequencing analysis of 22 natural strains and F1 segregation analysis. Six de novo assembled genomes revealed that genome size variation is largely attributable to genome-wide copy number variation (CNV) among strains rather than mating type-linked genomic regions or specific repeat sequences such as rDNA. Notably, about 30% of genes showed CNV even between strains that can mate with each other. Transcriptome and gene ontology analysis demonstrated that CNV is distributed nonrandomly in terms of gene functions, such that CNV was more often observed in the gene set with stage-specific expression. Furthermore, in about 30% of these genes with CNV, the expression level does not increase proportionally with the gene copy number, suggesting presence of dosage compensation, which was overrepresented in genes involved in basic biological functions, such as translation. Nonrandom patterns in gene duplications and corresponding expression changes in terms of gene functions may contribute to maintaining the high level of CNV associated with extensive genome size variation in the C. psl. complex, despite its possible detrimental effects.
MeSH term(s)	Closterium/genetics ; Genome Size ; DNA Copy Number Variations ; Plants/genetics ; Reproduction/genetics
Language	English
Publishing date	2023-06-20
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2495328-3
ISSN	1759-6653 ; 1759-6653
ISSN (online)	1759-6653
ISSN	1759-6653
DOI	10.1093/gbe/evad115
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.

Woodbury-Smith, Marc / Zarrei, Mehdi / Wei, John / Thiruvahindrapuram, Bhooma / O'Connor, Irene / Paterson, Andrew D / Yuen, Ryan K C / Dastan, Jila / Stavropoulos, Dimitri J / Howe, Jennifer L / Thompson, Ann / Parlier, Morgan / Fernandez, Bridget / Piven, Joseph / Anagnostou, Evdokia / Scherer, Stephen W / Vieland, Veronica J / Szatmari, Peter

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

2020 Volume 183, Issue 5, Page(s) 268–276

Abstract: ... autism phenotype, were phenotyped and genotyped in an attempt to identify heritable copy number variants ... In this study, nine extended pedigrees each with three or more individuals with ASD, and others with a lesser ... with these signals in any family. A small number of clinically relevant CNVs were identified. Only one CNV was ...

Abstract	Autism spectrum disorder (ASD) is a relatively common childhood onset neurodevelopmental disorder with a complex genetic etiology. While progress has been made in identifying the de novo mutational landscape of ASD, the genetic factors that underpin the ASD's tendency to run in families are not well understood. In this study, nine extended pedigrees each with three or more individuals with ASD, and others with a lesser autism phenotype, were phenotyped and genotyped in an attempt to identify heritable copy number variants (CNVs). Although these families have previously generated linkage signals, no rare CNV segregated with these signals in any family. A small number of clinically relevant CNVs were identified. Only one CNV was identified that segregated with ASD phenotype; namely, a duplication overlapping DLGAP2 in three male offspring each with an ASD diagnosis. This gene encodes a synaptic scaffolding protein, part of a group of proteins known to be pathologically implicated in ASD. On the whole, however, the heritable nature of ASD in the families studied remains poorly understood.
MeSH term(s)	Autism Spectrum Disorder/genetics ; Autistic Disorder/genetics ; Child ; Child, Preschool ; DNA Copy Number Variations ; DNA Mutational Analysis ; Female ; Gene Dosage ; Genetic Linkage ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Infant ; Male ; Mutation ; Nerve Tissue Proteins/genetics ; Pedigree ; Phenotype ; Risk Factors ; Synapses/metabolism ; Whole Genome Sequencing
Chemical Substances	DLGAP2 protein, human ; Nerve Tissue Proteins
Language	English
Publishing date	2020-05-06
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2108616-3
ISSN	1552-485X ; 1552-4841 ; 0148-7299
ISSN (online)	1552-485X
ISSN	1552-4841 ; 0148-7299
DOI	10.1002/ajmg.b.32785
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 1376/B: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Extensive Ethnic Variation and Linkage Disequilibrium at the

Nagelkerke, Sietse Q / Tacke, Carline E / Breunis, Willemijn B / Tanck, Michael W T / Geissler, Judy / Png, Eileen / Hoang, Long T / van der Heijden, Joris / Naim, Ahmad N M / Yeung, Rae S M / Levin, Michael L / Wright, Victoria J / Burgner, David P / Ponsonby, Anne-Louise / Ellis, Justine A / Cimaz, Rolando / Shimizu, Chisato / Burns, Jane C / Fijnvandraat, Karin /

van der Schoot, C Ellen / van den Berg, Timo K / de Boer, Martin / Davila, Sonia / Hibberd, Martin L / Kuijpers, Taco W

Frontiers in immunology

2019 Volume 10, Page(s) 185

Abstract: The human Fc-gamma receptors (FcγRs) link adaptive and innate immunity by binding immunoglobulin G (IgG). All human low-affinity FcγRs are encoded by ... ...

Abstract	The human Fc-gamma receptors (FcγRs) link adaptive and innate immunity by binding immunoglobulin G (IgG). All human low-affinity FcγRs are encoded by the
MeSH term(s)	Alleles ; Case-Control Studies ; DNA Copy Number Variations ; Ethnic Groups/genetics ; Gene Expression Profiling ; Gene Frequency ; Genetic Association Studies/methods ; Genetic Loci ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Haplotypes ; Humans ; Linkage Disequilibrium ; Mucocutaneous Lymph Node Syndrome/genetics ; Odds Ratio ; Polymorphism, Single Nucleotide ; Receptors, IgG/genetics
Chemical Substances	Receptors, IgG
Language	English
Publishing date	2019-03-21
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2019.00185
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.

Woodbury-Smith, Marc / Paterson, Andrew D / Thiruvahindrapduram, Bhooma / Lionel, Anath C / Marshall, Christian R / Merico, Daniele / Fernandez, Bridget A / Duku, Eric / Sutcliffe, James S / O'Conner, Irene / Chrysler, Christina / Thompson, Ann / Kellam, Barbara / Tammimies, Kristiina / Walker, Susan / Yuen, Ryan K C / Uddin, Mohammed / Howe, Jennifer L / Parlier, Morgan /

Whitten, Kathy / Szatmari, Peter / Vieland, Veronica J / Piven, Joseph / Scherer, Stephen W

Human genetics

2014 Volume 134, Issue 2, Page(s) 191–201

Abstract: Copy number variation has emerged as an important cause of phenotypic variation, particularly ... genome-wide CNV interrogation. We found no definitive evidence of an etiological role for segregating ... is emerging for an etiological role for some rare penetrant de novo and rare inherited copy number ...

Abstract	Copy number variation has emerged as an important cause of phenotypic variation, particularly in relation to some complex disorders. Autism spectrum disorder (ASD) is one such disorder, in which evidence is emerging for an etiological role for some rare penetrant de novo and rare inherited copy number variants (CNVs). De novo variation, however, does not always explain the familial nature of ASD, leaving a gap in our knowledge concerning the heritable genetic causes of this disorder. Extended pedigrees, in which several members have ASD, provide an opportunity to investigate inherited genetic risk factors. In this current study, we recruited 19 extended ASD pedigrees, and, using the Illumina HumanOmni2.5 BeadChip, conducted genome-wide CNV interrogation. We found no definitive evidence of an etiological role for segregating CNVs in these pedigrees, and no evidence that linkage signals in these pedigrees are explained by segregating CNVs. However, a small number of putative de novo variants were transmitted from BAP parents to their ASD offspring, and evidence emerged for a rare duplication CNV at 11p13.3 harboring two putative 'developmental/neuropsychiatric' susceptibility gene(s), GSTP1 and NDUFV1.
MeSH term(s)	Child Development Disorders, Pervasive/genetics ; Chromosomes, Human, Pair 11/genetics ; Databases, Nucleic Acid ; Datasets as Topic ; Female ; Gene Duplication ; Genetic Linkage ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Glutathione S-Transferase pi/genetics ; Humans ; Male ; NADH Dehydrogenase/genetics ; Pedigree ; Penetrance
Chemical Substances	NDUFV1 protein, human ; NADH Dehydrogenase (EC 1.6.99.3) ; GSTP1 protein, human (EC 2.5.1.18) ; Glutathione S-Transferase pi (EC 2.5.1.18)
Language	English
Publishing date	2014-11-29
Publishing country	Germany
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-014-1513-6
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 256: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music.

Ukkola-Vuoti, Liisa / Kanduri, Chakravarthi / Oikkonen, Jaana / Buck, Gemma / Blancher, Christine / Raijas, Pirre / Karma, Kai / Lähdesmäki, Harri / Järvelä, Irma

PloS one

2013 Volume 8, Issue 2, Page(s) e56356

Abstract: ... to further elucidate the molecular background of musical phenotypes we analyzed genome wide copy number ... variations (CNVs) in five extended pedigrees and in 172 unrelated subjects characterized for musical aptitude ... music test scores or creative/non-creative groups. In summary, CNVs and genes found in this study are ...

Abstract	Music perception and practice represent complex cognitive functions of the human brain. Recently, evidence for the molecular genetic background of music related phenotypes has been obtained. In order to further elucidate the molecular background of musical phenotypes we analyzed genome wide copy number variations (CNVs) in five extended pedigrees and in 172 unrelated subjects characterized for musical aptitude and creative functions in music. Musical aptitude was defined by combination of the scores of three music tests (COMB scores): auditory structuring ability, Seashores test for pitch and for time. Data on creativity in music (herein composing, improvising and/or arranging music) was surveyed using a web-based questionnaire.Several CNVRs containing genes that affect neurodevelopment, learning and memory were detected. A deletion at 5q31.1 covering the protocadherin-α gene cluster (Pcdha 1-9) was found co-segregating with low music test scores (COMB) in both sample sets. Pcdha is involved in neural migration, differentiation and synaptogenesis. Creativity in music was found to co-segregate with a duplication covering glucose mutarotase gene (GALM) at 2p22. GALM has influence on serotonin release and membrane trafficking of the human serotonin transporter. Interestingly, genes related to serotonergic systems have been shown to associate not only with psychiatric disorders but also with creativity and music perception. Both, Pcdha and GALM, are related to the serotonergic systems influencing cognitive and motor functions, important for music perception and practice. Finally, a 1.3 Mb duplication was identified in a subject with low COMB scores in the region previously linked with absolute pitch (AP) at 8q24. No differences in the CNV burden was detected among the high/low music test scores or creative/non-creative groups. In summary, CNVs and genes found in this study are related to cognitive functions. Our result suggests new candidate genes for music perception related traits and supports the previous results from AP study.
MeSH term(s)	Adolescent ; Adult ; Aptitude ; Base Pairing/genetics ; Creativity ; DNA Copy Number Variations/genetics ; Databases, Genetic ; Family ; Female ; Gene Duplication/genetics ; Genome, Human/genetics ; Humans ; Male ; Middle Aged ; Music ; Pedigree ; Phenotype ; Young Adult
Language	English
Publishing date	2013-02-27
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0056356
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.

Lesch, K-P / Selch, S / Renner, T J / Jacob, C / Nguyen, T T / Hahn, T / Romanos, M / Walitza, S / Shoichet, S / Dempfle, A / Heine, M / Boreatti-Hümmer, A / Romanos, J / Gross-Lesch, S / Zerlaut, H / Wultsch, T / Heinzel, S / Fassnacht, M / Fallgatter, A /

Allolio, B / Schäfer, H / Warnke, A / Reif, A / Ropers, H-H / Ullmann, R

Molecular psychiatry

2011 Volume 16, Issue 5, Page(s) 491–503

Abstract: ... and micro-duplications that may have a role in the pathogenesis of ADHD, we carried out a genome-wide ... screen for copy number variations (CNVs) in a cohort of 99 children and adolescents with severe ADHD ... association of this 7p15 duplication with increased NPY plasma concentrations (empirical family-based ...

Abstract	Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental syndrome characterized by hyperactivity, inattention and increased impulsivity. To detect micro-deletions and micro-duplications that may have a role in the pathogenesis of ADHD, we carried out a genome-wide screen for copy number variations (CNVs) in a cohort of 99 children and adolescents with severe ADHD. Using high-resolution array comparative genomic hybridization (aCGH), a total of 17 potentially syndrome-associated CNVs were identified. The aberrations comprise 4 deletions and 13 duplications with approximate sizes ranging from 110 kb to 3 Mb. Two CNVs occurred de novo and nine were inherited from a parent with ADHD, whereas five are transmitted by an unaffected parent. Candidates include genes expressing acetylcholine-metabolizing butyrylcholinesterase (BCHE), contained in a de novo chromosome 3q26.1 deletion, and a brain-specific pleckstrin homology domain-containing protein (PLEKHB1), with an established function in primary sensory neurons, in two siblings carrying a 11q13.4 duplication inherited from their affected mother. Other genes potentially influencing ADHD-related psychopathology and involved in aberrations inherited from affected parents are the genes for the mitochondrial NADH dehydrogenase 1 α subcomplex assembly factor 2 (NDUFAF2), the brain-specific phosphodiesterase 4D isoform 6 (PDE4D6) and the neuronal glucose transporter 3 (SLC2A3). The gene encoding neuropeptide Y (NPY) was included in a ∼3 Mb duplication on chromosome 7p15.2-15.3, and investigation of additional family members showed a nominally significant association of this 7p15 duplication with increased NPY plasma concentrations (empirical family-based association test, P=0.023). Lower activation of the left ventral striatum and left posterior insula during anticipation of large rewards or losses elicited by functional magnetic resonance imaging links gene dose-dependent increases in NPY to reward and emotion processing in duplication carriers. These findings implicate CNVs of behaviour-related genes in the pathogenesis of ADHD and are consistent with the notion that both frequent and rare variants influence the development of this common multifactorial syndrome.
MeSH term(s)	Adolescent ; Attention Deficit Disorder with Hyperactivity/genetics ; Attention Deficit Disorder with Hyperactivity/pathology ; Brain/blood supply ; Brain/pathology ; Child ; Chromosome Mapping/methods ; Chromosomes, Human, Pair 7/genetics ; Cohort Studies ; Comparative Genomic Hybridization/methods ; DNA Copy Number Variations/genetics ; Family Health ; Female ; Gene Dosage/genetics ; Genome-Wide Association Study/methods ; Humans ; Image Processing, Computer-Assisted ; Magnetic Resonance Imaging/methods ; Male ; Neuropeptide Y/blood ; Neuropeptide Y/genetics ; Oxygen/blood ; Pedigree ; Phenotype
Chemical Substances	Neuropeptide Y ; Oxygen (S88TT14065)
Language	English
Publishing date	2011-05
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1330655-8
ISSN	1476-5578 ; 1359-4184
ISSN (online)	1476-5578
ISSN	1359-4184
DOI	10.1038/mp.2010.29
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 4812: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music.

Liisa Ukkola-Vuoti / Chakravarthi Kanduri / Jaana Oikkonen / Gemma Buck / Christine Blancher / Pirre Raijas / Kai Karma / Harri Lähdesmäki / Irma Järvelä

PLoS ONE, Vol 8, Iss 2, p e

2013 Volume 56356

Abstract	Music perception and practice represent complex cognitive functions of the human brain. Recently, evidence for the molecular genetic background of music related phenotypes has been obtained. In order to further elucidate the molecular background of musical phenotypes we analyzed genome wide copy number variations (CNVs) in five extended pedigrees and in 172 unrelated subjects characterized for musical aptitude and creative functions in music. Musical aptitude was defined by combination of the scores of three music tests (COMB scores): auditory structuring ability, Seashores test for pitch and for time. Data on creativity in music (herein composing, improvising and/or arranging music) was surveyed using a web-based questionnaire.Several CNVRs containing genes that affect neurodevelopment, learning and memory were detected. A deletion at 5q31.1 covering the protocadherin-α gene cluster (Pcdha 1-9) was found co-segregating with low music test scores (COMB) in both sample sets. Pcdha is involved in neural migration, differentiation and synaptogenesis. Creativity in music was found to co-segregate with a duplication covering glucose mutarotase gene (GALM) at 2p22. GALM has influence on serotonin release and membrane trafficking of the human serotonin transporter. Interestingly, genes related to serotonergic systems have been shown to associate not only with psychiatric disorders but also with creativity and music perception. Both, Pcdha and GALM, are related to the serotonergic systems influencing cognitive and motor functions, important for music perception and practice. Finally, a 1.3 Mb duplication was identified in a subject with low COMB scores in the region previously linked with absolute pitch (AP) at 8q24. No differences in the CNV burden was detected among the high/low music test scores or creative/non-creative groups. In summary, CNVs and genes found in this study are related to cognitive functions. Our result suggests new candidate genes for music perception related traits and supports the previous results ...
Keywords	Medicine ; R ; Science ; Q
Subject code	780
Language	English
Publishing date	2013-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Effect of PCR extension temperature on high-throughput sequencing.

López-Barragán, María José / Quiñones, Mariam / Cui, Kairong / Lemieux, Jacob / Zhao, Keji / Su, Xin-Zhuan

Molecular and biochemical parasitology

2010 Volume 176, Issue 1, Page(s) 64–67

Abstract: ... investigating genome-wide gene expression, nucleosome position, and copy number variation. Here we compare ... genome-wide nucleosome coverage in libraries amplified at three different extension temperatures and show ... an AT-rich genome, and some of its highly AT-rich regions have been shown to be refractory to polymerase ...

Abstract	The DNA amplification process can be a source of bias and artifacts, especially when amplifying genomic areas with extreme AT or GC content. The human malaria parasite Plasmodium falciparum has an AT-rich genome, and some of its highly AT-rich regions have been shown to be refractory to polymerase chain reaction (PCR) amplification. Biased amplification may lead to erroneous conclusions for studies investigating genome-wide gene expression, nucleosome position, and copy number variation. Here we compare genome-wide nucleosome coverage in libraries amplified at three different extension temperatures and show that reduction in PCR extension temperature from 70°C to 60°C can greatly increase the fraction of coverage at AT-rich regions of the P. falciparum genome. Our method will improve the efficiency and coverage in sequencing an AT-rich genome.
MeSH term(s)	AT Rich Sequence ; Base Composition ; Genome, Protozoan/genetics ; Genome-Wide Association Study/methods ; High-Throughput Nucleotide Sequencing ; Humans ; Plasmodium falciparum/genetics ; Polymerase Chain Reaction/methods ; Temperature
Language	English
Publishing date	2010-11-26
Publishing country	Netherlands
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	756166-0
ISSN	1872-9428 ; 0166-6851
ISSN (online)	1872-9428
ISSN	0166-6851
DOI	10.1016/j.molbiopara.2010.11.013
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.B 2437: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

To top

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito