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The 4154delA mutation carriers in the BRCA1 gene share a common ancestry.

https://arctichealth.org/en/permalink/ahliterature153810
Source
Fam Cancer. 2009;8(1):1-4
Publication Type
Article
Date
2009
Author
Silvija Ozolina
Olga Sinicka
Eriks Jankevics
Inna Inashkina
Jan Lubinski
Bohdan Gorski
Jacek Gronwald
Tatyana Nasedkina
Olga Fedorova
Ludmila Lyubchenko
Laima Tihomirova
Author Affiliation
Latvian Biomedical Research and Study Centre, Ratsupites str. 1, Riga, 1067, Latvia.
Source
Fam Cancer. 2009;8(1):1-4
Date
2009
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - genetics
DNA Mutational Analysis
Female
Founder Effect
Genes, BRCA1
Genetic Predisposition to Disease
Haplotypes
Humans
Latvia
Male
Microsatellite Repeats
Mutation
Pedigree
Poland
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Polymorphism, Single-Stranded Conformational
Russia
Abstract
Uncertainty exists whether the 4154delA mutation of the BRCA1 gene detected in unrelated individuals from Latvia, Poland and Russia is a founder mutation with a common ancestral origin. To trace back this problem we analysed the mutation-associated haplotype of the BRCA1 intragenic SNPs as well as intragenic and nearby STR markers in mutation carriers from the aforementioned populations. The mutation-associated SNP alleles were found to be "T-A-A-A-A-G" for six intragenic SNPs of the BRCA1 gene (IVS8-58delT, 3232A/G, 3667A/G, IVS16-68A/G, IVS16-92A/G, IVS18+66G/A, respectively). The alleles 195, 154, 210 and 181 were found to be associated with the 4154delA mutation for STR markers D17S1325, D17S855, D17S1328 and D17S1320, correspondingly. Further analysis of markers in the 4154delA mutation carriers from all three populations allows us to assert that all analysed mutation carriers share a common ancestry.
PubMed ID
19067236 View in PubMed
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Admixed ancestry and stratification of Quebec regional populations.

https://arctichealth.org/en/permalink/ahliterature137252
Source
Am J Phys Anthropol. 2011 Mar;144(3):432-41
Publication Type
Article
Date
Mar-2011
Author
Claude Bherer
Damian Labuda
Marie-Hélène Roy-Gagnon
Louis Houde
Marc Tremblay
Hélène Vézina
Author Affiliation
Centre de Recherche du CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.
Source
Am J Phys Anthropol. 2011 Mar;144(3):432-41
Date
Mar-2011
Language
English
Publication Type
Article
Keywords
Analysis of Variance
Emigrants and Immigrants
Founder Effect
Genealogy and Heraldry
Humans
Marriage
Population Dynamics
Principal Component Analysis
Quebec
Abstract
Population stratification results from unequal, nonrandom genetic contribution of ancestors and should be reflected in the underlying genealogies. In Quebec, the distribution of Mendelian diseases points to local founder effects suggesting stratification of the contemporary French Canadian gene pool. Here we characterize the population structure through the analysis of the genetic contribution of 7,798 immigrant founders identified in the genealogies of 2,221 subjects partitioned in eight regions. In all but one region, about 90% of gene pools were contributed by early French founders. In the eastern region where this contribution was 76%, we observed higher contributions of Acadians, British and American Loyalists. To detect population stratification from genealogical data, we propose an approach based on principal component analysis (PCA) of immigrant founders' genetic contributions. This analysis was compared with a multidimensional scaling of pairwise kinship coefficients. Both methods showed evidence of a distinct identity of the northeastern and eastern regions and stratification of the regional populations correlated with geographical location along the St-Lawrence River. In addition, we observed a West-East decreasing gradient of diversity. Analysis of PC-correlated founders illustrates the differential impact of early versus latter founders consistent with specific regional genetic patterns. These results highlight the importance of considering the geographic origin of samples in the design of genetic epidemiology studies conducted in Quebec. Moreover, our results demonstrate that the study of deep ascending genealogies can accurately reveal population structure.
PubMed ID
21302269 View in PubMed
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Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia.

https://arctichealth.org/en/permalink/ahliterature268546
Source
PLoS One. 2014;9(6):e100848
Publication Type
Article
Date
2014
Author
Nikolay A Barashkov
Fedor M Teryutin
Vera G Pshennikova
Aisen V Solovyev
Leonid A Klarov
Natalya A Solovyeva
Andrei A Kozhevnikov
Lena M Vasilyeva
Elvira E Fedotova
Maria V Pak
Sargylana N Lekhanova
Elena V Zakharova
Kyunney E Savvinova
Nyurgun N Gotovtsev
Adyum M Rafailo
Nikolay V Luginov
Anatoliy N Alexeev
Olga L Posukh
Lilya U Dzhemileva
Elza K Khusnutdinova
Sardana A Fedorova
Source
PLoS One. 2014;9(6):e100848
Date
2014
Language
English
Publication Type
Article
Keywords
Age Factors
Asian Continental Ancestry Group - genetics
Connexins - chemistry - genetics - physiology
DNA Mutational Analysis
Founder Effect
Hearing Loss - genetics
Humans
Mutation
Siberia
Abstract
Age-Related Hearing Impairment (ARHI) is one of the frequent sensory disorders registered in 50% of individuals over 80 years. ARHI is a multifactorial disorder due to environmental and poor-known genetic components. In this study, we present the data on age-related hearing impairment of 48 heterozygous carriers of mutation IVS1+1G>A (GJB2 gene) and 97 subjects with GJB2 genotype wt/wt in the Republic of Sakha/Yakutia (Eastern Siberia, Russia). This subarctic territory was found as the region with the most extensive accumulation of mutation IVS1+1G>A in the world as a result of founder effect in the unique Yakut population isolate. The GJB2 gene resequencing and detailed audiological analysis in the frequency range 0.25, 0.5, 1.0, 2.0, 4.0, 8.0 kHz were performed in all examined subjects that allowed to investigate genotype-phenotype correlations between the presence of single mutation IVS1+1G>A and hearing of subjects from examined groups. We revealed the linear correlation between increase of average hearing thresholds at speech frequencies (PTA0.5,1.0,2.0,4.0 kHz) and age of individuals with GJB2 genotype IVS1+1G>A/wt (rs?=?0.499, p?=?0.006860 for males and rs?=?0.427, p?=?0.000277 for females). Moreover, the average hearing thresholds on high frequency (8.0 kHz) in individuals with genotype IVS1+1G>A/wt (both sexes) were significantly worse than in individuals with genotype wt/wt (pA/wt was estimated to be ~40 years (rs?=?0.504, p?=?0.003). These findings demonstrate that the single IVS1+1G>A mutation (GJB2) is associated with age-related hearing impairment (ARHI) of the IVS1+1G>A carriers in the Yakuts.
Notes
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Cites: Hear Res. 2002 Jan;163(1-2):93-10011788203
PubMed ID
24959830 View in PubMed
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Allelic transcripts dosage effect in morphologically normal ovarian cells from heterozygous carriers of a BRCA1/2 French Canadian founder mutation.

https://arctichealth.org/en/permalink/ahliterature126306
Source
Cancer Prev Res (Phila). 2012 May;5(5):765-77
Publication Type
Article
Date
May-2012
Author
Diala Abd-Rabbo
Christine Abaji
Guillaume B Cardin
Abdelali Filali-Mouhim
Caroline Arous
Lise Portelance
Enrique Escobar
Sophie Cloutier
Patricia N Tonin
Diane M Provencher
Anne-Marie Mes-Masson
Christine M Maugard
Author Affiliation
Institut du cancer de Montréal/Centre de recherche du Centre hospitalier de l'Université de Montréal, Québec, Canada.
Source
Cancer Prev Res (Phila). 2012 May;5(5):765-77
Date
May-2012
Language
English
Publication Type
Article
Keywords
Adult
Aged
Alleles
Canada
Cells, Cultured
DNA Mutational Analysis
Female
Founder Effect
Gene Dosage - physiology
Genes, BRCA1 - physiology
Genes, BRCA2 - physiology
Heterozygote
Humans
Middle Aged
Mutation
Ovary - chemistry - cytology - metabolism
Penetrance
Quebec
RNA, Messenger - analysis - genetics
Validation Studies as Topic
Abstract
We hypothesized that the transcriptome of primary cultures of morphologically normal ovarian surface epithelial cells could be altered by the presence of a heterozygous BRCA1 or BRCA2 mutation. We aimed to discover early events associated with ovarian carcinogenesis, which could represent putative targets for preventive strategies of this silent killer tumor. We identified the first molecular signature associated with French Canadian BRCA1 or BRCA2 founder mutations in morphologically normal ovarian epithelial cells. We discovered that wild-type and mutated BRCA2 allelic transcripts were expressed not only in morphologically normal but also in tumor cells from BRCA2-8765delAG carriers. Further analysis of morphologically normal ovarian and tumor cells from BRCA1-4446C>T carriers lead to the same observation. Our data support the idea that one single hit in BRCA1 or BRCA2 is sufficient to alter the transcriptome of phenotypically normal ovarian epithelial cells. The highest level of BRCA2-mutated allele transcript expression was measured in cells originating from the most aggressive ovarian tumor. The penetrance of the mutation and the aggressiveness of the related tumor could depend on a dosage effect of the mutated allele transcript.
PubMed ID
22401979 View in PubMed
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Ancestral Asian source(s) of new world Y-chromosome founder haplotypes.

https://arctichealth.org/en/permalink/ahliterature203013
Source
Am J Hum Genet. 1999 Mar;64(3):817-31
Publication Type
Article
Date
Mar-1999
Author
T M Karafet
S L Zegura
O. Posukh
L. Osipova
A. Bergen
J. Long
D. Goldman
W. Klitz
S. Harihara
P. de Knijff
V. Wiebe
R C Griffiths
A R Templeton
M F Hammer
Author Affiliation
Laboratory of Molecular Systematics and Evolution, University of Arizona, Tucson, AZ 85721, USA.
Source
Am J Hum Genet. 1999 Mar;64(3):817-31
Date
Mar-1999
Language
English
Publication Type
Article
Keywords
Asia - ethnology
Emigration and Immigration
Founder Effect
Gene Frequency
Genetics, Population
Haplotypes
Humans
Indians, North American - genetics
Linguistics
Male
Microsatellite Repeats
Phylogeny
Polymorphism, Genetic
Population Dynamics
Y Chromosome - genetics
Abstract
Haplotypes constructed from Y-chromosome markers were used to trace the origins of Native Americans. Our sample consisted of 2,198 males from 60 global populations, including 19 Native American and 15 indigenous North Asian groups. A set of 12 biallelic polymorphisms gave rise to 14 unique Y-chromosome haplotypes that were unevenly distributed among the populations. Combining multiallelic variation at two Y-linked microsatellites (DYS19 and DXYS156Y) with the unique haplotypes results in a total of 95 combination haplotypes. Contra previous findings based on Y- chromosome data, our new results suggest the possibility of more than one Native American paternal founder haplotype. We postulate that, of the nine unique haplotypes found in Native Americans, haplotypes 1C and 1F are the best candidates for major New World founder haplotypes, whereas haplotypes 1B, 1I, and 1U may either be founder haplotypes and/or have arrived in the New World via recent admixture. Two of the other four haplotypes (YAP+ haplotypes 4 and 5) are probably present because of post-Columbian admixture, whereas haplotype 1G may have originated in the New World, and the Old World source of the final New World haplotype (1D) remains unresolved. The contrasting distribution patterns of the two major candidate founder haplotypes in Asia and the New World, as well as the results of a nested cladistic analysis, suggest the possibility of more than one paternal migration from the general region of Lake Baikal to the Americas.
Notes
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PubMed ID
10053017 View in PubMed
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Ancestry, genes, and suicide: a test of the Finno-Ugrian Suicide Hypothesis in the United States.

https://arctichealth.org/en/permalink/ahliterature79428
Source
Percept Mot Skills. 2006 Oct;103(2):543-50
Publication Type
Article
Date
Oct-2006
Author
Voracek Martin
Author Affiliation
Department of Basic Psychological Research, School of Psychology, University of Vienna, Liebiggasse 5, Rm 03-42, A-1010 Vienna, Austria. martin.voracek@univie.ac.at
Source
Percept Mot Skills. 2006 Oct;103(2):543-50
Date
Oct-2006
Language
English
Publication Type
Article
Keywords
Cause of Death
Cross-Cultural Comparison
Cross-Sectional Studies
Emigration and Immigration
Ethnic Groups - genetics
Europe
Founder Effect
Gene Pool
Genetic Predisposition to Disease - genetics
Genetics, Population
Genotype
Humans
Risk
Suicide - ethnology - statistics & numerical data - trends
United States
Abstract
There is now convergent evidence from classic quantitative genetics (family, twin, and adoption studies) and molecular genetic studies for specific genetic risk factors for suicidal behavior. This emerging research field has recently been supplemented by geographical studies concerned with the Finno-Ugrian Suicide Hypothesis (FUSH), which states that population differences in genetic risk factors may partially account for conspicuous geographical patterns seen in suicide prevalence. In particular, the European high-suicide-rate nations constitute a contiguous, J-shaped belt, spanning from Finland to Austria. This area maps onto the second principal component identified for European gene distribution, most likely reflecting a major migration event of the past (i.e., the ancestral adaptation to cold climates and the Uralic language dispersion) still detectable in modern European populations. The present research tested the hypothesis in the United States. Consistent with the hypothesis, available historical (1913-1924 and 1928-1932) U.S. state suicide rates were uniformly positively associated with available state proportions of reported American ancestries from European high-suicide-rate countries (Hungary, Lithuania, Poland, Russia, Slovakia, and the Ukraine). However, contrary to the hypothesis, available contemporary (1990-1994) suicide rates were uniformly negatively associated with these ancestry proportions. The findings of this first test outside Europe are therefore conflicting. A proposal based on the geographical study approach is offered to further the progress of investigations into the genetics of suicide.
PubMed ID
17165419 View in PubMed
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Ancient genomes from Iceland reveal the making of a human population.

https://arctichealth.org/en/permalink/ahliterature294280
Source
Science. 2018 06 01; 360(6392):1028-1032
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Date
06-01-2018
Author
S Sunna Ebenesersdóttir
Marcela Sandoval-Velasco
Ellen D Gunnarsdóttir
Anuradha Jagadeesan
Valdís B Guðmundsdóttir
Elísabet L Thordardóttir
Margrét S Einarsdóttir
Kristjan H S Moore
Ásgeir Sigurðsson
Droplaug N Magnúsdóttir
Hákon Jónsson
Steinunn Snorradóttir
Eivind Hovig
Pål Møller
Ingrid Kockum
Tomas Olsson
Lars Alfredsson
Thomas F Hansen
Thomas Werge
Gianpiero L Cavalleri
Edmund Gilbert
Carles Lalueza-Fox
Joe W Walser
Steinunn Kristjánsdóttir
Shyam Gopalakrishnan
Lilja Árnadóttir
Ólafur Þ Magnússon
M Thomas P Gilbert
Kári Stefánsson
Agnar Helgason
Author Affiliation
deCODE Genetics/AMGEN, Inc., Reykjavik Iceland. sunna@decode.is kstefan@deocde.is agnar@decode.is.
Source
Science. 2018 06 01; 360(6392):1028-1032
Date
06-01-2018
Language
English
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Biological Evolution
DNA, Ancient
Female
Founder Effect
Gene Pool
Genetic Drift
Genome, Human
Genotype
Humans
Iceland
Male
Phenotype
Population - genetics
Abstract
Opportunities to directly study the founding of a human population and its subsequent evolutionary history are rare. Using genome sequence data from 27 ancient Icelanders, we demonstrate that they are a combination of Norse, Gaelic, and admixed individuals. We further show that these ancient Icelanders are markedly more similar to their source populations in Scandinavia and the British-Irish Isles than to contemporary Icelanders, who have been shaped by 1100 years of extensive genetic drift. Finally, we report evidence of unequal contributions from the ancient founders to the contemporary Icelandic gene pool. These results provide detailed insights into the making of a human population that has proven extraordinarily useful for the discovery of genotype-phenotype associations.
Notes
CommentIn: Science. 2018 Jun 1;360(6392):964-965 PMID 29853673
PubMed ID
29853688 View in PubMed
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Ancient mitochondrial DNA analysis reveals complexity of indigenous North American turkey domestication.

https://arctichealth.org/en/permalink/ahliterature145606
Source
Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):2807-12
Publication Type
Article
Date
Feb-16-2010
Author
Camilla F Speller
Brian M Kemp
Scott D Wyatt
Cara Monroe
William D Lipe
Ursula M Arndt
Dongya Y Yang
Author Affiliation
Ancient DNA Laboratory, Department of Archaeology, Simon Fraser University, Burnaby, BC V5A 1S6, Canada.
Source
Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):2807-12
Date
Feb-16-2010
Language
English
Publication Type
Article
Keywords
Animals
Animals, Domestic - genetics
Base Sequence
Bone and Bones - chemistry
Breeding - methods
Cluster analysis
DNA Primers - genetics
DNA, Mitochondrial - genetics
Demography
Feces - chemistry
Fossils
Founder Effect
Geography
Humans
Molecular Sequence Data
Phylogeny
Sequence Analysis, DNA
Southwestern United States
Species Specificity
Turkeys - genetics
Abstract
Although the cultural and nutritive importance of the turkey (Meleagris gallopavo) to precontact Native Americans and contemporary people worldwide is clear, little is known about the domestication of this bird compared to other domesticates. Mitochondrial DNA analysis of 149 turkey bones and 29 coprolites from 38 archaeological sites (200 BC-AD 1800) reveals a unique domesticated breed in the precontact Southwestern United States. Phylogeographic analyses indicate that this domestic breed originated from outside the region, but rules out the South Mexican domestic turkey (Meleagris gallopavo gallopavo) as a progenitor. A strong genetic bottleneck within the Southwest turkeys also reflects intensive human selection and breeding. This study points to at least two occurrences of turkey domestication in precontact North America and illuminates the intensity and sophistication of New World animal breeding practices.
Notes
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PubMed ID
20133614 View in PubMed
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An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

https://arctichealth.org/en/permalink/ahliterature155933
Source
Eur J Hum Genet. 2009 Jan;17(1):80-4
Publication Type
Article
Date
Jan-2009
Author
Inga Ebermann
Robert K Koenekoop
Irma Lopez
Lara Bou-Khzam
Renée Pigeon
Hanno J Bolz
Author Affiliation
Institute of Human Genetics, University of Cologne, Cologne, Germany.
Source
Eur J Hum Genet. 2009 Jan;17(1):80-4
Date
Jan-2009
Language
English
Publication Type
Article
Keywords
DNA Mutational Analysis
Extracellular Matrix Proteins - genetics
Founder Effect
France - ethnology
Haplotypes
Humans
Microsatellite Repeats
Mutation
New Brunswick
Quebec
Usher Syndromes - genetics
Abstract
Congenital hearing loss affects approximately one child in 1000. About 10% of the deaf population have Usher syndrome (USH). In USH, hearing loss is complicated by retinal degeneration with onset in the first (USH1) or second (USH2) decade. In most populations, diagnostic testing is hampered by a multitude of mutations in nine genes. We have recently shown that in French Canadians from Quebec, USH1 largely results from a single USH1C founder mutation, c.216G>A ('Acadian allele'). The genetic basis of USH2 in Canadians of French descent, however, has remained elusive. Here, we have investigated nine USH2 families from Quebec and New Brunswick (the former Acadia) by haplotype analyses of the USH2A locus and sequencing of the three known USH2 genes. Seven USH2A mutations were identified in eight patients. One of them, c.4338_4339delCT, accounts for 10 out of 18 disease alleles (55.6%). This mutation has previously been reported in an Acadian USH2 family, and it was found in homozygous state in the three Acadians of our sample. As in the case of c.216G>A (USH1C), a common haplotype is associated with c.4338_4339delCT. With a limited number of molecular tests, it will now be possible in these populations to estimate whether children with congenital hearing impairment of different degrees will develop retinal disease - with important clinical and therapeutic implications. USH2 is the second example that reveals a significant genetic overlap between Quebecois and Acadians: in contrast to current understanding, other genetic disorders present in both populations are likely based on common founder mutations as well.
Notes
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PubMed ID
18665195 View in PubMed
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268 records – page 1 of 27.