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Article: Interleukin-6 promoter variants in patients with spontaneous cervical artery dissections.

Wiest, Tina / Werner, Inge / Brandt, Tobias / Grond-Ginsbach, Caspar

Cerebrovascular diseases (Basel, Switzerland)

2004 Volume 17, Issue 4, Page(s) 347–348

MeSH term(s)	Gene Frequency ; Haplotypes ; Humans ; Interleukin-6/genetics ; Polymorphism, Genetic ; Promoter Regions, Genetic/genetics ; Risk Factors ; Stroke/epidemiology ; Stroke/genetics ; Vertebral Artery Dissection/genetics
Chemical Substances	Interleukin-6
Language	English
Publishing date	2004
Publishing country	Switzerland
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	1069462-6
ISSN	1421-9786 ; 1015-9770
ISSN (online)	1421-9786
ISSN	1015-9770
DOI	10.1159/000077954
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Article: Interleukin-6 Promoter Variants in Patients with Spontaneous Cervical Artery Dissections

Wiest, Tina / Werner, Inge / Brandt, Tobias / Grond-Ginsbach, Caspar

Cerebrovascular Diseases

2004 Volume 17, Issue 4, Page(s) 347–348

Institution	Deparment of Neurology, University of Heidelberg and Kliniken Schmieder, Heidelberg, Germany
Language	English
Publishing date	2004-05-14
Publisher	S. Karger AG
Publishing place	Basel, Switzerland
Document type	Article
Note	Letters to the Editor
ZDB-ID	1069462-6
ISSN	1421-9786 ; 1015-9770
ISSN (online)	1421-9786
ISSN	1015-9770
DOI	10.1159/000077954
Database	Karger publisher's database

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Article: Involvement of intact HPV16 E6/E7 gene expression in head and neck cancers with unaltered p53 status and perturbed pRb cell cycle control.

Wiest, Tina / Schwarz, Elisabeth / Enders, Christel / Flechtenmacher, Christa / Bosch, Franz X

Oncogene

2002 Volume 21, Issue 10, Page(s) 1510–1517

Abstract: We have identified parameters which define a causal role of HPV16 in head and neck cancer. Twenty-eight tumours which were typed positive for HPV16 DNA, were comprehensively analysed for expression of the viral oncogenes E6 and E7, the status of the p53 ... ...

Abstract	We have identified parameters which define a causal role of HPV16 in head and neck cancer. Twenty-eight tumours which were typed positive for HPV16 DNA, were comprehensively analysed for expression of the viral oncogenes E6 and E7, the status of the p53 gene, and the protein status of pRb and p16(INK4a). In a subset of cases, we have searched for integrated viral DNA, and have determined the genomic status of the E6 gene. Expression of E6/E7 was found in 12 tumours most of which were derived from the oropharynx, whereas p53 mutations were present in 13 tumours from various sites. The tumours either carried p53 mutations but did not express E6/E7, or they did express E6/E7 but were p53-wild-type. Coexistence of E6/E7 expression with a mutated p53 was found in only one case. Strikingly, in most p53-mutated tumours without E6/E7 expression, we found the E6 gene to be disrupted. E6/E7 expression was associated with reduced pRb and overexpressed p16(INK4a). Viral-cellular fusion transcripts were found in two cases. Our data demonstrate that HPV16 DNA-positivity in head and neck cancers is not indicative of a causal role. A causal role of HPV16 in head and neck cancer is defined by: E6/E7 expression, viral integration with an intact E6 gene, and perturbation of pRb cell cycle control. Mostly, the p53 gene is wild-type.
MeSH term(s)	Base Sequence ; Cell Cycle ; Cyclin-Dependent Kinase Inhibitor p16/immunology ; Cyclin-Dependent Kinase Inhibitor p16/metabolism ; DNA Mutational Analysis ; DNA, Neoplasm/analysis ; Genes, p53 ; Head and Neck Neoplasms/genetics ; Head and Neck Neoplasms/metabolism ; Head and Neck Neoplasms/virology ; Humans ; Immunohistochemistry ; Molecular Sequence Data ; Mutation ; Oncogene Proteins, Fusion/genetics ; Oncogene Proteins, Viral/biosynthesis ; Oncogene Proteins, Viral/genetics ; Papillomaviridae/isolation & purification ; Papillomavirus E7 Proteins ; RNA, Viral/biosynthesis ; Repressor Proteins ; Retinoblastoma Protein/immunology ; Retinoblastoma Protein/metabolism ; Transcription, Genetic
Chemical Substances	Cyclin-Dependent Kinase Inhibitor p16 ; DNA, Neoplasm ; E6 protein, Human papillomavirus type 16 ; Oncogene Proteins, Fusion ; Oncogene Proteins, Viral ; Papillomavirus E7 Proteins ; RNA, Viral ; Repressor Proteins ; Retinoblastoma Protein ; oncogene protein E7, Human papillomavirus type 16
Language	English
Publishing date	2002-02-28
Publishing country	England
Document type	Journal Article
ZDB-ID	639046-8
ISSN	1476-5594 ; 0950-9232
ISSN (online)	1476-5594
ISSN	0950-9232
DOI	10.1038/sj.onc.1205214
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Zs.A 2218: Show issues

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Article: Organotypic co-cultures allow for immortalized human gingival keratinocytes to reconstitute a gingival epithelial phenotype in vitro.

Roesch-Ely, Mariana / Steinberg, Thorsten / Bosch, F Xavier / Müssig, Eva / Whitaker, Noel / Wiest, Tina / Kohl, Annette / Komposch, Gerda / Tomakidi, Pascal

Differentiation; research in biological diversity

2006 Volume 74, Issue 9-10, Page(s) 622–637

Abstract: We report here that the organotypic co-culture (OCC) system allows for significant preservation of the tissue-specific phenotype of human gingival keratinocytes (IHGK) immortalized with the E6/E7 gene of the human papillomavirus type 16 (HPV16). The ... ...

Abstract	We report here that the organotypic co-culture (OCC) system allows for significant preservation of the tissue-specific phenotype of human gingival keratinocytes (IHGK) immortalized with the E6/E7 gene of the human papillomavirus type 16 (HPV16). The approach adopted is based on the OCC system facilitating spatially separated cell growth and cell-to-cell interactions via diffusible growth factors. Generally, IHGK reveal transcription of the HPV16 E6/E7 gene at rising passages. Fluorescence in situ hybridization performed for chromosomes 1, 8, 10, and 18 demonstrates that disomic fractions differ between the tested chromosomes but otherwise remain fairly constant. Monosomies of chromosome 18 are more prominent in late passages 81 and 83, while polysomies of chromosome 10 and 18 are detected in early passages 25 and 27. In comparison with corresponding monolayer cultures (MCs), IHGK in OCCs form stratified epithelia, proliferate, and express gingival-specific gene products in vitro. Moreover, mRNA gene transcription for growth factors interleukin 1beta, granulocyte-macrophage colony stimulating factor, fibroblast growth factor 7, and EGF in OCCs is different from that in MCs. When grafted onto nude mice, IHGK develop hyperplastic, differentiated surface epithelia devoid of malignant growth. We are not aware of any other OCC system comprising of IHGK, which allows for site-specific expression of gingival epithelial markers. This substantiates reconstitution of a gingival epithelial phenotype in vitro.
MeSH term(s)	Animals ; Cell Transformation, Viral ; Cells, Cultured ; Coculture Techniques ; Epithelial Cells/metabolism ; Female ; Gingiva/cytology ; Gingiva/metabolism ; Human papillomavirus 16/genetics ; Human papillomavirus 16/metabolism ; Humans ; Keratinocytes/cytology ; Keratinocytes/metabolism ; Laser Scanning Cytometry ; Mice ; Mice, Nude ; Oncogene Proteins, Viral/genetics ; Oncogene Proteins, Viral/metabolism ; Phenotype ; RNA, Messenger/metabolism ; Transcription, Genetic
Chemical Substances	Oncogene Proteins, Viral ; RNA, Messenger
Language	English
Publishing date	2006-12
Publishing country	England
Document type	Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	184540-8
ISSN	1432-0436 ; 0301-4681
ISSN (online)	1432-0436
ISSN	0301-4681
DOI	10.1111/j.1432-0436.2006.00099.x
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Zs.A 1170: Show issues

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Article ; Online: Copy number variation in patients with cervical artery dissection.

Grond-Ginsbach, Caspar / Chen, Bowang / Pjontek, Rastislav / Wiest, Tina / Jiang, Yanxiang / Burwinkel, Barbara / Tchatchou, Sandrine / Krawczak, Michael / Schreiber, Stefan / Brandt, Tobias / Kloss, Manja / Arnold, Marie-Luise / Hemminki, Kari / Lichy, Christoph / Lyrer, Philippe A / Hausser, Ingrid / Engelter, Stefan T

European journal of human genetics : EJHG

2012 Volume 20, Issue 12, Page(s) 1295–1299

Abstract: Cervical artery dissection (CeAD) occurs in healthy young individuals and often entails ischemic stroke. Skin biopsies from most CeAD-patients show minor connective tissue alterations. We search for rare genetic deletions and duplication that may ... ...

Abstract	Cervical artery dissection (CeAD) occurs in healthy young individuals and often entails ischemic stroke. Skin biopsies from most CeAD-patients show minor connective tissue alterations. We search for rare genetic deletions and duplication that may predispose to CeAD. Forty-nine non-traumatic CeAD-patients with electron microscopic (EM) alterations of their dermal connective tissue (EM+ patients) and 21 patients with normal connective tissue in skin biopsies (EM- patients) were analyzed. Affymetrix 6.0 microarrays (Affymetrix) from all patients were screened for copy number variants (CNVs). CNVs absent from 403 control subjects and from 2402 published disease-free individuals were considered as CeAD-associated. The genetic content of undentified CNVs was analyzed by means of the Gene Ontology (GO) Term Mapper to detect associations with biological processes. In 49 EM+ patients we identified 13 CeAD-associated CNVs harboring 83 protein-coding genes. In 21 EM- patients we found five CeAD-associated CNVs containing only nine genes (comparison of CNV gene density between the groups: Mann-Whitney P=0.039). Patients' CNVs were enriched for genes involved in extracellular matrix organization (COL5A2, COL3A1, SNTA1, P=0.035), collagen fibril organization COL5A2, COL3A1, (P=0.0001) and possibly for genes involved in transforming growth factor beta (TGF)-beta receptor signaling pathway (COL3A1, DUPS22, P=0.068). We conclude that rare genetic variants may contribute to the pathogenesis of CeAD, in particular in patients with a microscopic connective tissue phenotype.
MeSH term(s)	Adult ; Carotid Artery, Internal, Dissection/genetics ; Case-Control Studies ; Collagen/genetics ; Collagen/metabolism ; Connective Tissue/pathology ; DNA Copy Number Variations ; Extracellular Matrix/genetics ; Extracellular Matrix/metabolism ; Female ; Gene Deletion ; Gene Duplication ; Genetic Association Studies ; Genetic Loci ; Humans ; Male ; Transforming Growth Factors/genetics ; Transforming Growth Factors/metabolism ; Vertebral Artery Dissection/genetics
Chemical Substances	Transforming Growth Factors (76057-06-2) ; Collagen (9007-34-5)
Language	English
Publishing date	2012-05-23
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/ejhg.2012.82
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Zs.A 3589: Show issues

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Article ; Online: Increased expression of cell-cell signaling genes by stimulated mononuclear leukocytes in patients with previous atherothrombotic stroke. A whole genome expression profile study.

Grond-Ginsbach, Caspar / Horstmann, Solveig / Hummel, Manuela / Wiest, Tina / Honold, Cornelius / Pfleger, Karin / Hergenhahn, Manfred / Hollstein, Monika / Weninger, Annette / Knyazev, Yuri / Mansmann, Ulrich / Wagner, Simone / Grau, Armin J

European neurology

2009 Volume 62, Issue 1, Page(s) 30–39

Abstract: Background/aims: Inflammation plays an important role in atherosclerosis and stroke. Acute infections are recognized as trigger factors for ischemic stroke.: Methods: In this whole genome expression profile study of 15 patients and 15 control ... ...

Abstract	Background/aims: Inflammation plays an important role in atherosclerosis and stroke. Acute infections are recognized as trigger factors for ischemic stroke. Methods: In this whole genome expression profile study of 15 patients and 15 control subjects, we tested the hypothesis that patients with a history of atherothrombotic stroke show enhanced transcription of inflammatory genes in circulating leukocytes. RNA from unstimulated or lipopolysaccharide (LPS)-stimulated peripheral blood mononuclear cells (PBMCs) was analyzed with Affymetrix U133A GeneChips using a pooling design. Expression of single genes and functional groups of genes was analyzed by global statistical tests. Results: A total of 10,197 probe sets showed positive calls. After correction for multiple testing no single probe set revealed significant differences either without or with LPS stimulation. However, significant global expression differences were found upon LPS stimulation for the group of genes that are involved in cell-cell signaling. Conclusion: LPS stimulation of PBMCs, a condition mimicking bacterial infection, induces differential expression of a group of cell-cell signaling genes in patients with previous atherothrombotic stroke. This finding can be caused by genetic differences between both groups, but acquired risk factors, medication and technical factors may also have contributed to the result.
MeSH term(s)	Aged ; Aged, 80 and over ; Brain Ischemia/blood ; Brain Ischemia/genetics ; Female ; Gene Expression ; Genome ; Humans/genetics ; Inflammation/genetics ; Leukocytes, Mononuclear/drug effects ; Leukocytes, Mononuclear/physiology ; Lipopolysaccharides/toxicity ; Male ; Middle Aged ; Multivariate Analysis ; Oligonucleotide Array Sequence Analysis ; Reverse Transcriptase Polymerase Chain Reaction ; Signal Transduction/genetics ; Stroke/blood ; Stroke/genetics
Chemical Substances	Lipopolysaccharides
Language	English
Publishing date	2009
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	209426-5
ISSN	1421-9913 ; 0014-3022
ISSN (online)	1421-9913
ISSN	0014-3022
DOI	10.1159/000215878
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Article ; Online: Genetic analysis of familial connective tissue alterations associated with cervical artery dissections suggests locus heterogeneity.

Wiest, Tina / Hyrenbach, Sonja / Bambul, Pinar / Erker, Birgit / Pezzini, Alessandro / Hausser, Ingrid / Arnold, Marie-Luise / Martin, Juan José / Engelter, Stefan / Lyrer, Philippe / Busse, Otto / Brandt, Tobias / Grond-Ginsbach, Caspar

Stroke

2006 Volume 37, Issue 7, Page(s) 1697–1702

Abstract: Background and purpose: Cervical artery dissections (CAD) can be associated with connective tissue aberrations in skin biopsies. The analysis of healthy relatives of patients suggested that the connective tissue phenotype is familial with an autosomal ... ...

Abstract	Background and purpose: Cervical artery dissections (CAD) can be associated with connective tissue aberrations in skin biopsies. The analysis of healthy relatives of patients suggested that the connective tissue phenotype is familial with an autosomal dominant inheritance. Methods: We performed genetic linkage studies in 3 families of patients with CAD. Connective tissue phenotypes for the patients and all family members were assessed by electron microscopic study of skin biopsies. A genome-wide linkage analysis of 1 family (1 patient with 8 healthy relatives) indicated 2 candidate loci. Three genes were subsequently studied by sequence analysis. Part of the genome was also studied by linkage analysis in 2 further families. Results: The genome-wide scan in a single family suggested linkage between the hypothetical mutation causing the connective tissue phenotype and informative genetic markers on chromosome 15q24 (logarithm of the odds score: Z= +2.1). A second possible candidate locus (Z=+1.9) was found on chromosome 10q26. Sequence analysis of 3 candidate genes in the suggestive locus (chondroitin sulfate proteoglycan4 [CSPG4], lysyl oxidase-like1 [LOXL1] and fibroblast growth factor receptor2 [FGFR2]) did not lead to the identification of a mutation responsible for connective tissue alterations. In 2 additional smaller families the loci on chromosome 15q24 and 10q26 were excluded by linkage analysis. Conclusions: Linkage analysis of a large family with CAD-associated connective tissue alterations suggested the presence of a candidate locus on chromosome 15q2 or on chromosome 10q26. Sequence analysis did not lead to the identification of a mutated candidate gene in 1 of these loci. The study of 2 additional pedigrees indicated locus heterogeneity for the connective tissue phenotype of CAD patients.
MeSH term(s)	Adult ; Aged ; Amino Acid Oxidoreductases/genetics ; Aneurysm, Dissecting/complications ; Aneurysm, Dissecting/genetics ; Aneurysm, Dissecting/pathology ; Biopsy ; Carotid Artery, Internal, Dissection/genetics ; Chondroitin Sulfate Proteoglycans/genetics ; Chromosome Mapping ; Chromosomes, Human, Pair 10/genetics ; Chromosomes, Human, Pair 15/genetics ; Connective Tissue/pathology ; Connective Tissue Diseases/complications ; Connective Tissue Diseases/genetics ; Female ; Genetic Heterogeneity ; Genetic Predisposition to Disease ; Humans ; Lod Score ; Male ; Membrane Proteins/genetics ; Middle Aged ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Skin/pathology ; Stroke/etiology
Chemical Substances	CSPG4 protein, human ; Chondroitin Sulfate Proteoglycans ; Membrane Proteins ; Amino Acid Oxidoreductases (EC 1.4.-) ; LOXL1 protein, human (EC 1.4.3.-)
Language	English
Publishing date	2006-07
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80381-9
ISSN	1524-4628 ; 0039-2499 ; 0749-7954
ISSN (online)	1524-4628
ISSN	0039-2499 ; 0749-7954
DOI	10.1161/01.STR.0000226624.93519.78
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Article: Increased Expression of Cell–Cell Signaling Genes by Stimulated Mononuclear Leukocytes in Patients with Previous Atherothrombotic Stroke

European Neurology

2009 Volume 62, Issue 1, Page(s) 30–39

Abstract: Background/Aims: Inflammation plays an important role in atherosclerosis and stroke. Acute infections are recognized as trigger factors for ischemic stroke. Methods: In this whole genome expression profile study of 15 patients and 15 control subjects, we ...

Institution	Department of Neurology, University of Heidelberg, Heidelberg IBE, Medical School, LMU Munich, Munich Department of Genetic Alterations in Carcinogenesis, German Cancer Research Center, Heidelberg, and Department of Neurology, Klinikum der Stadt Ludwigshafen, Ludwigshafen am Rhein, Germany
Abstract	Background/Aims: Inflammation plays an important role in atherosclerosis and stroke. Acute infections are recognized as trigger factors for ischemic stroke. Methods: In this whole genome expression profile study of 15 patients and 15 control subjects, we tested the hypothesis that patients with a history of atherothrombotic stroke show enhanced transcription of inflammatory genes in circulating leukocytes. RNA from unstimulated or lipopolysaccharide (LPS)-stimulated peripheral blood mononuclear cells (PBMCs) was analyzed with Affymetrix U133A GeneChips using a pooling design. Expression of single genes and functional groups of genes was analyzed by global statistical tests. Results: A total of 10,197 probe sets showed positive calls. After correction for multiple testing no single probe set revealed significant differences either without or with LPS stimulation. However, significant global expression differences were found upon LPS stimulation for the group of genes that are involved in cell–cell signaling. Conclusion: LPS stimulation of PBMCs, a condition mimicking bacterial infection, induces differential expression of a group of cell–cell signaling genes in patients with previous atherothrombotic stroke. This finding can be caused by genetic differences between both groups, but acquired risk factors, medication and technical factors may also have contributed to the result.
Keywords	Blood ; Stroke ; Endotoxin, bacterial ; Mononuclear cells ; Gene expression
Language	English
Publishing date	2009-04-30
Publisher	S. Karger AG
Publishing place	Basel, Switzerland
Document type	Article
Note	Original Paper
ZDB-ID	209426-5
ISSN	1421-9913 ; 0014-3022
ISSN (online)	1421-9913
ISSN	0014-3022
DOI	10.1159/000215878
Database	Karger publisher's database

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Article ; Online: Multiple levels of regulation of the interleukin-6 system in stroke.

Acalovschi, Daniela / Wiest, Tina / Hartmann, Marius / Farahmi, Maryam / Mansmann, Ulrich / Auffarth, Gerd U / Grau, Armin J / Green, Fiona R / Grond-Ginsbach, Caspar / Schwaninger, Markus

Stroke

2003 Volume 34, Issue 8, Page(s) 1864–1869

Abstract: Background and purpose: Serum levels of the cytokine interleukin-6 (IL-6) rise markedly in stroke. IL-6 is a key regulator of inflammatory mechanisms that play an important part in stroke pathophysiology. The action of IL-6 is modified by its soluble ... ...

Abstract	Background and purpose: Serum levels of the cytokine interleukin-6 (IL-6) rise markedly in stroke. IL-6 is a key regulator of inflammatory mechanisms that play an important part in stroke pathophysiology. The action of IL-6 is modified by its soluble receptor subunits sgp130 and sIL-6R. The purpose of this study was to investigate whether serum levels of the receptor subunits are changed after ischemic stroke and to define the role of genetic influences on IL-6 expression in acute stroke. Methods: In 48 patients with acute stroke and 48 age- and sex-matched control subjects, serum concentrations of IL-6, sgp130, and sIL-6R were measured by enzyme-linked immunosorbent assay. Furthermore, IL-6 promoter haplotypes comprising 4 different polymorphisms (-597G-->A, -572G-->C, -373A(n)T(n), -174G-->C) were determined by DNA sequencing and allele-specific oligonucleotide polymerase chain reaction. The effect of the common haplotypes on IL-6 gene transcription was tested by transfecting reporter fusion genes in the astrocytelike cell line U373. Results: Whereas serum concentrations of IL-6 significantly rose (P<0.001), sgp130 levels were transiently reduced after stroke (P<0.05), and sIL-6R levels remained unchanged. IL-6 levels depended on the infarct size and the haplotype of the promoter region. The common haplotype A-G-8/12-C was associated with low IL-6 levels after stroke and a reduced induction of IL-6 transcription on stimulation with an adenosine analog in vitro. Conclusions: The data demonstrate genetic variation in the expression of IL-6 in stroke. Induction of the inflammatory response by IL-6 might be enhanced by a transient downregulation of the potential IL-6 antagonist sgp130.
MeSH term(s)	Acute Disease ; Antigens, CD/blood ; Astrocytes/cytology ; Astrocytes/metabolism ; Biomarkers/blood ; C-Reactive Protein/analysis ; Cell Line ; Cytokine Receptor gp130 ; Enzyme-Linked Immunosorbent Assay ; Female ; Gene Frequency ; Genes, Reporter ; Haplotypes ; Humans ; Interleukin-6/blood ; Interleukin-6/genetics ; Interleukin-6/metabolism ; Male ; Membrane Glycoproteins/blood ; Middle Aged ; Polymorphism, Genetic ; Promoter Regions, Genetic ; Prospective Studies ; Receptors, Interleukin-6/blood ; Stroke/blood ; Stroke/metabolism ; Transfection
Chemical Substances	Antigens, CD ; Biomarkers ; IL6ST protein, human ; Interleukin-6 ; Membrane Glycoproteins ; Receptors, Interleukin-6 ; Cytokine Receptor gp130 (133483-10-0) ; C-Reactive Protein (9007-41-4)
Language	English
Publishing date	2003-08
Publishing country	United States
Document type	Clinical Trial ; Controlled Clinical Trial ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80381-9
ISSN	1524-4628 ; 0039-2499 ; 0749-7954
ISSN (online)	1524-4628
ISSN	0039-2499 ; 0749-7954
DOI	10.1161/01.STR.0000079815.38626.44
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Article ; Online: A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.

Purps, Josephine / Siegert, Sabine / Willuweit, Sascha / Nagy, Marion / Alves, Cíntia / Salazar, Renato / Angustia, Sheila M T / Santos, Lorna H / Anslinger, Katja / Bayer, Birgit / Ayub, Qasim / Wei, Wei / Xue, Yali / Tyler-Smith, Chris / Bafalluy, Miriam Baeta / Martínez-Jarreta, Begoña / Egyed, Balazs / Balitzki, Beate / Tschumi, Sibylle /

Ballard, David / Court, Denise Syndercombe / Barrantes, Xinia / Bäßler, Gerhard / Wiest, Tina / Berger, Burkhard / Niederstätter, Harald / Parson, Walther / Davis, Carey / Budowle, Bruce / Burri, Helen / Borer, Urs / Koller, Christoph / Carvalho, Elizeu F / Domingues, Patricia M / Chamoun, Wafaa Takash / Coble, Michael D / Hill, Carolyn R / Corach, Daniel / Caputo, Mariela / D'Amato, Maria E / Davison, Sean / Decorte, Ronny / Larmuseau, Maarten H D / Ottoni, Claudio / Rickards, Olga / Lu, Di / Jiang, Chengtao / Dobosz, Tadeusz / Jonkisz, Anna / Frank, William E / Furac, Ivana / Gehrig, Christian / Castella, Vincent / Grskovic, Branka / Haas, Cordula / Wobst, Jana / Hadzic, Gavrilo / Drobnic, Katja / Honda, Katsuya / Hou, Yiping / Zhou, Di / Li, Yan / Hu, Shengping / Chen, Shenglan / Immel, Uta-Dorothee / Lessig, Rüdiger / Jakovski, Zlatko / Ilievska, Tanja / Klann, Anja E / García, Cristina Cano / de Knijff, Peter / Kraaijenbrink, Thirsa / Kondili, Aikaterini / Miniati, Penelope / Vouropoulou, Maria / Kovacevic, Lejla / Marjanovic, Damir / Lindner, Iris / Mansour, Issam / Al-Azem, Mouayyad / Andari, Ansar El / Marino, Miguel / Furfuro, Sandra / Locarno, Laura / Martín, Pablo / Luque, Gracia M / Alonso, Antonio / Miranda, Luís Souto / Moreira, Helena / Mizuno, Natsuko / Iwashima, Yasuki / Neto, Rodrigo S Moura / Nogueira, Tatiana L S / Silva, Rosane / Nastainczyk-Wulf, Marina / Edelmann, Jeanett / Kohl, Michael / Nie, Shengjie / Wang, Xianping / Cheng, Baowen / Núñez, Carolina / Pancorbo, Marian Martínez de / Olofsson, Jill K / Morling, Niels / Onofri, Valerio / Tagliabracci, Adriano / Pamjav, Horolma / Volgyi, Antonia / Barany, Gusztav / Pawlowski, Ryszard / Maciejewska, Agnieszka / Pelotti, Susi / Pepinski, Witold / Abreu-Glowacka, Monica / Phillips, Christopher / Cárdenas, Jorge / Rey-Gonzalez, Danel / Salas, Antonio / Brisighelli, Francesca / Capelli, Cristian / Toscanini, Ulises / Piccinini, Andrea / Piglionica, Marilidia / Baldassarra, Stefania L / Ploski, Rafal / Konarzewska, Magdalena / Jastrzebska, Emila / Robino, Carlo / Sajantila, Antti / Palo, Jukka U / Guevara, Evelyn / Salvador, Jazelyn / Ungria, Maria Corazon De / Rodriguez, Jae Joseph Russell / Schmidt, Ulrike / Schlauderer, Nicola / Saukko, Pekka / Schneider, Peter M / Sirker, Miriam / Shin, Kyoung-Jin / Oh, Yu Na / Skitsa, Iulia / Ampati, Alexandra / Smith, Tobi-Gail / Calvit, Lina Solis de / Stenzl, Vlastimil / Capal, Thomas / Tillmar, Andreas / Nilsson, Helena / Turrina, Stefania / De Leo, Domenico / Verzeletti, Andrea / Cortellini, Venusia / Wetton, Jon H / Gwynne, Gareth M / Jobling, Mark A / Whittle, Martin R / Sumita, Denilce R / Wolańska-Nowak, Paulina / Yong, Rita Y Y / Krawczak, Michael / Nothnagel, Michael / Roewer, Lutz

Forensic science international. Genetics

2014 Volume 12, Page(s) 12–23

Abstract: In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, ...

Abstract	In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent.
MeSH term(s)	Alleles ; Chromosomes, Human, Y ; Forensic Genetics ; Haplotypes ; Humans ; Microsatellite Repeats
Language	English
Publishing date	2014-04-28
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2493339-9
ISSN	1878-0326 ; 1872-4973
ISSN (online)	1878-0326
ISSN	1872-4973
DOI	10.1016/j.fsigen.2014.04.008
Database	MEDical Literature Analysis and Retrieval System OnLINE

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