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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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Adaptive variation in senescence: reproductive lifespan in a wild salmon population.

https://arctichealth.org/en/permalink/ahliterature6679
Source
Proc Biol Sci. 2004 Feb 7;271(1536):259-66
Publication Type
Article
Date
Feb-7-2004
Author
Andrew P Hendry
Yolanda E Morbey
Ole K Berg
John K Wenburg
Author Affiliation
Redpath Museum and Department of Biology, McGill University, Montréal, Québec, Canada. andrew.hendry@mcgill.ca
Source
Proc Biol Sci. 2004 Feb 7;271(1536):259-66
Date
Feb-7-2004
Language
English
Publication Type
Article
Keywords
Adaptation, Physiological
Age Factors
Aging - physiology
Alaska
Animals
Body Composition
Comparative Study
Female
Game Theory
Genetics, Population
Microsatellite Repeats - genetics
Models, Biological
Nesting Behavior - physiology
Reproduction - physiology
Research Support, Non-U.S. Gov't
Salmon - physiology
Selection (Genetics)
Abstract
The antagonistic pleiotropy theory of senescence postulates genes or traits that have opposite effects on early-life and late-life performances. Because selection is generally weaker late in life, genes or traits that improve early-life performance but impair late-life performance should come to predominate. Variation in the strength of age-specific selection should then generate adaptive variation in senescence. We demonstrate this mechanism by comparing early and late breeders within a population of semelparous capital-breeding sockeye salmon (Oncorhynchus nerka). We show that early breeders (but not late breeders) are under strong selection for a long reproductive lifespan (RLS), which facilitates defence of their nests against disturbance by later females. Accordingly, early females invest less energy in egg production while reserving more for nest defence. Variation along this reproductive trade-off causes delayed or slower senescence in early females (average RLS of 26 days) than in late females (reproductive lifespan of 12 days). We use microsatellites to confirm that gene flow is sufficiently limited between early and late breeders to allow adaptive divergence in response to selection. Because reproductive trade-offs should be almost universal and selection acting on them should typically vary in time and space, the mechanism described herein may explain much of the natural variation in senescence.
PubMed ID
15058436 View in PubMed
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Admixture and gene flow from Russia in the recovering Northern European brown bear (Ursus arctos).

https://arctichealth.org/en/permalink/ahliterature259339
Source
PLoS One. 2014;9(5):e97558
Publication Type
Article
Date
2014
Author
Alexander Kopatz
Hans Geir Eiken
Jouni Aspi
Ilpo Kojola
Camilla Tobiassen
Konstantin F Tirronen
Pjotr I Danilov
Snorre B Hagen
Source
PLoS One. 2014;9(5):e97558
Date
2014
Language
English
Publication Type
Article
Keywords
Animals
Finland
Gene Flow - genetics
Genetic Variation
Microsatellite Repeats
Norway
Russia
Scandinavian and Nordic Countries
Sweden
Ursidae - genetics
Abstract
Large carnivores were persecuted to near extinction during the last centuries, but have now recovered in some countries. It has been proposed earlier that the recovery of the Northern European brown bear is supported by migration from Russia. We tested this hypothesis by obtaining for the first time continuous sampling of the whole Finnish bear population, which is located centrally between the Russian and Scandinavian bear populations. The Finnish population is assumed to experience high gene flow from Russian Karelia. If so, no or a low degree of genetic differentiation between Finnish and Russian bears could be expected. We have genotyped bears extensively from all over Finland using 12 validated microsatellite markers and compared their genetic composition to bears from Russian Karelia, Sweden, and Norway. Our fine masked investigation identified two overlapping genetic clusters structured by isolation-by-distance in Finland (pairwise FST = 0.025). One cluster included Russian bears, and migration analyses showed a high number of migrants from Russia into Finland, providing evidence of eastern gene flow as an important driver during recovery. In comparison, both clusters excluded bears from Sweden and Norway, and we found no migrants from Finland in either country, indicating that eastern gene flow was probably not important for the population recovery in Scandinavia. Our analyses on different spatial scales suggest a continuous bear population in Finland and Russian Karelia, separated from Scandinavia.
Notes
Cites: Mol Ecol. 2001 Feb;10(2):305-1811298947
Cites: Genetics. 2000 Jun;155(2):945-5910835412
Cites: Proc Natl Acad Sci U S A. 2003 Apr 1;100(7):4334-912655042
Cites: Mol Ecol. 2004 Jan;13(1):55-6514653788
Cites: Mol Ecol. 2004 May;13(5):1327-3115078468
Cites: J Hered. 2004 Nov-Dec;95(6):536-915475402
Cites: Science. 1987 May 15;236(4803):787-923576198
Cites: Mol Ecol. 1994 Oct;3(5):489-957952329
Cites: Mol Ecol. 1995 Jun;4(3):347-547663752
Cites: Genetics. 1995 Aug;140(4):1413-97498780
Cites: Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9197-2019256459
Cites: Mol Ecol. 1997 Sep;6(9):869-769301075
Cites: Mol Ecol. 2005 Jul;14(8):2611-2015969739
Cites: Genetics. 2005 Jul;170(3):1261-8015520263
Cites: Science. 2005 Aug 19;309(5738):1239-4116037416
Cites: Proc Biol Sci. 2005 Nov 22;272(1579):2409-1616243699
Cites: Mol Ecol. 2008 Apr;17(7):1685-70118371014
Cites: Biol Lett. 2009 Feb 23;5(1):35-818842564
Cites: Mol Ecol. 2010 Dec;19(24):5359-7021044194
Cites: Forensic Sci Int Genet. 2011 Nov;5(5):501-521106449
Cites: Proc Biol Sci. 2012 Mar 7;279(1730):910-521849323
Cites: Mol Ecol. 2012 Jul;21(14):3474-8822680614
Cites: Forensic Sci Int Genet. 2012 Dec;6(6):798-80922483764
Cites: Mol Ecol. 2000 Apr;9(4):421-3110736045
Cites: Nature. 2002 Jan 31;415(6871):520-211823858
PubMed ID
24839968 View in PubMed
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Agroecosystems shape population genetic structure of the greenhouse whitefly in Northern and Southern Europe.

https://arctichealth.org/en/permalink/ahliterature258712
Source
BMC Evol Biol. 2014;14:165
Publication Type
Article
Date
2014
Author
Irina Ovcarenko
Despoina Evripidis Kapantaidaki
Leena Lindström
Nathalie Gauthier
Anastasia Tsagkarakou
Karelyn Emily Knott
Irene Vänninen
Source
BMC Evol Biol. 2014;14:165
Date
2014
Language
English
Publication Type
Article
Keywords
Animals
Climate change
Ecosystem
Female
Finland
Gene Flow
Genetics, Population
Greece
Hemiptera - classification - genetics
Microsatellite Repeats
Abstract
To predict further invasions of pests it is important to understand what factors contribute to the genetic structure of their populations. Cosmopolitan pest species are ideal for studying how different agroecosystems affect population genetic structure within a species at different climatic extremes. We undertook the first population genetic study of the greenhouse whitefly (Trialeurodes vaporariorum), a cosmopolitan invasive herbivore, and examined the genetic structure of this species in Northern and Southern Europe. In Finland, cold temperatures limit whiteflies to greenhouses and prevent them from overwintering in nature, and in Greece, milder temperatures allow whiteflies to inhabit both fields and greenhouses year round, providing a greater potential for connectivity among populations. Using nine microsatellite markers, we genotyped 1274 T. vaporariorum females collected from 18 greenhouses in Finland and eight greenhouses as well as eight fields in Greece.
Populations from Finland were less diverse than those from Greece, suggesting that Greek populations are larger and subjected to fewer bottlenecks. Moreover, there was significant population genetic structure in both countries that was explained by different factors. Habitat (field vs. greenhouse) together with longitude explained genetic structure in Greece, whereas in Finland, genetic structure was explained by host plant species. Furthermore, there was no temporal genetic structure among populations in Finland, suggesting that year-round populations are able to persist in greenhouses.
Taken together our results show that greenhouse agroecosystems can limit gene flow among populations in both climate zones. Fragmented populations in greenhouses could allow for efficient pest management. However, pest persistence in both climate zones, coupled with increasing opportunities for naturalization in temperate latitudes due to climate change, highlight challenges for the management of cosmopolitan pests in Northern and Southern Europe.
Notes
Cites: BMC Evol Biol. 2013;13:22824138220
Cites: Bull Entomol Res. 2014 Jun;104(3):357-6624661625
Cites: Pest Manag Sci. 2014 Oct;70(10):1477-9124458589
Cites: Pest Manag Sci. 2014 Oct;70(10):1524-3024757031
Cites: Genetics. 2000 Jun;155(2):945-5910835412
Cites: Bull Entomol Res. 2000 Oct;90(5):407-4811082558
Cites: Exp Appl Acarol. 2000;24(5-6):365-7611156162
Cites: Mol Ecol. 2005 Jul;14(8):2611-2015969739
Cites: Mol Ecol. 2005 Dec;14(14):4207-1916313587
Cites: Genet Res. 2006 Apr;87(2):109-2416709274
Cites: Genetics. 2006 Oct;174(2):875-9116951078
Cites: Bull Entomol Res. 2007 Feb;97(1):29-4017298679
Cites: Bioinformatics. 2007 Jul 15;23(14):1801-617485429
Cites: Environ Entomol. 2007 Aug;36(4):952-6117716487
Cites: Annu Rev Entomol. 2008;53:431-4817877454
Cites: Heredity (Edinb). 2008 Mar;100(3):316-2518073781
Cites: Nat Rev Genet. 2008 Jun;9(6):421-3218463665
Cites: BMC Ecol. 2009;9:1319432979
Cites: Mol Ecol. 2010 Mar;19(6):1122-3320163547
Cites: Bull Entomol Res. 2012 Jun;102(3):353-6522280837
Cites: Bioinformatics. 2012 Oct 1;28(19):2537-922820204
Cites: BMC Evol Biol. 2013;13:1323331855
Cites: Mol Ecol Resour. 2013 Mar;13(2):341-323356940
Cites: J Econ Entomol. 2013 Jun;106(3):1355-6423865202
PubMed ID
25266268 View in PubMed
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ALOX5AP gene and the PDE4D gene in a central European population of stroke patients.

https://arctichealth.org/en/permalink/ahliterature176042
Source
Stroke. 2005 Apr;36(4):731-6
Publication Type
Article
Date
Apr-2005
Author
Elin Lõhmussaar
Andreas Gschwendtner
Jakob C Mueller
Tõnis Org
Erich Wichmann
Gerhard Hamann
Thomas Meitinger
Martin Dichgans
Author Affiliation
Institutes of Human Genetics, GSF-National Research Institute for Environment and Health, Neuherberg, Germany.
Source
Stroke. 2005 Apr;36(4):731-6
Date
Apr-2005
Language
English
Publication Type
Article
Keywords
3',5'-Cyclic-AMP Phosphodiesterases - genetics
5-Lipoxygenase-Activating Proteins
Aged
Alleles
Carrier Proteins - genetics
Case-Control Studies
Cyclic Nucleotide Phosphodiesterases, Type 3
Cyclic Nucleotide Phosphodiesterases, Type 4
Edetic Acid - chemistry
Europe, Eastern
Female
Gene Frequency
Genetic markers
Genotype
Haplotypes
Humans
Iceland
Ischemia
Linkage Disequilibrium
Magnetic Resonance Imaging
Male
Membrane Proteins - genetics
Microsatellite Repeats
Middle Aged
Odds Ratio
Polymorphism, Single Nucleotide
Regression Analysis
Risk
Risk factors
Sex Factors
Stroke - genetics
Abstract
Recent evidence has implicated the genes for 5-lipoxygenase activating protein (ALOX5AP) and phosphodiesterase 4D (PDE4D) as susceptibility genes for stroke in the Icelandic population. The aim of the present study was to explore the role of these genes in a central European population of stroke patients.
A total of 639 consecutive stroke patients and 736 unrelated population-based controls that had been matched for age and sex were examined using a case-control design. Twenty-two single-nucleotide polymorphisms (SNPs) covering ALOX5AP were genotyped. For PDE4D, microsatellite AC008818-1 and 12 SNPs, which tag all common haplotypes in previously identified linkage disequilibrium (LD) blocks, were analyzed.
A nominally significant association with stroke was observed with several SNPs from ALOX5AP, including SNP SG13S114, which had been part of the Icelandic at-risk haplotype. Associations were stronger in males than in females, with SG13S114 (odds ratio, 1.24; 95% CI, 1.04 to 1.55; P=0.017) and SG13S100 (odds ratio, 1.26; 95% CI 1.03 to 1.54; P=0.024) showing the strongest associations. No significant associations were detected with single markers and haplotypes in PDE4D. The frequencies of single-marker alleles and haplotypes differed largely from those in the Icelandic population.
The present study suggests that sequence variants in the ALOX5AP gene are significantly associated with stroke, particularly in males. Variants in the PDE4D gene are not a major risk factor for stroke in individuals from central Europe. Population differences in allele and haplotype frequencies as well as LD structure may contribute to the observed differences between populations.
PubMed ID
15731479 View in PubMed
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Alterations of the FHIT gene in breast cancer: association with tumor progression and patient survival.

https://arctichealth.org/en/permalink/ahliterature19718
Source
Cancer Detect Prev. 2001;25(3):292-8
Publication Type
Article
Date
2001
Author
S. Ingvarsson
B I Sigbjornsdottir
C. Huiping
J G Jonasson
B A Agnarsson
Author Affiliation
Department of Pathology, University Hospital, Reykjavik, Iceland.
Source
Cancer Detect Prev. 2001;25(3):292-8
Date
2001
Language
English
Publication Type
Article
Keywords
Acid Anhydride Hydrolases
Adult
Breast Neoplasms - genetics - pathology
Disease Progression
Female
Follow-Up Studies
Gene Expression Regulation, Neoplastic
Humans
Loss of Heterozygosity
Microsatellite Repeats - genetics
Neoplasm Proteins
Prognosis
Protein Biosynthesis
Research Support, Non-U.S. Gov't
Survival Analysis
Abstract
Our previous results on breast tumors show that LOH (loss of heterozygosity) at the FHIT locus is associated with reduced Fhit protein expression. We have also shown that LOH at this locus is significantly higher in tumors from patients carrying the BRCA2 999de15 mutation than in tumors without this mutation, presumably because of lack of DNA repair. Here, our aim was to determine the relationship of FHIT LOH with breast tumor progression. Five microsatellite markers located within the FHIT gene were typed in 239 breast tumors and corresponding normal tissue, and the LOH results were compared with clinicopathologic factors and LOH at other chromosome regions. LOH at FHIT is associated with estrogen- and progesterone-negative breast tumors, high S-phase fraction, reduced patient survival, and LOH at chromosome regions 6q, 7q, 8p, 9p, 11p, 11q, 13q, 16q, 17p, 17q, 18q, and 20q. A multivariate analysis shows that LOH at FHIT results in a 60% increased relative risk of dying. We conclude that the loss of FHIT results in growth advantage of breast tumor cells, is associated with unstable genome, and may be of prognostic value.
PubMed ID
11425271 View in PubMed
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Altered expression of E-cadherin in breast cancer. patterns, mechanisms and clinical significance.

https://arctichealth.org/en/permalink/ahliterature20400
Source
Eur J Cancer. 2000 Jun;36(9):1098-106
Publication Type
Article
Date
Jun-2000
Author
K S Asgeirsson
J G J¿onasson
L. Tryggvad¿ottir
K. Olafsd¿ottir
J R Sigurgeirsd¿ottir
S. Ingvarsson
H M Ogmundsd¿ottir
Author Affiliation
Molecular and Cell Biology Laboratory, Icelandic Cancer Society, PO Box 5420, Reykjav¿ik, Iceland.
Source
Eur J Cancer. 2000 Jun;36(9):1098-106
Date
Jun-2000
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Breast Neoplasms - genetics - metabolism
Cadherins - metabolism
DNA, Neoplasm - genetics
Disease-Free Survival
Female
Humans
Immunohistochemistry
Loss of Heterozygosity - genetics
Microsatellite Repeats - genetics
Middle Aged
Mutation - genetics
Neoplasm Metastasis
Neoplasm Proteins - metabolism
Neoplasm Recurrence, Local - metabolism
Polymerase Chain Reaction - methods
Prognosis
Research Support, Non-U.S. Gov't
Abstract
Reduced cell adhesion brought about by altered surface expression of E-cadherin has been implicated in invasive and metastatic malignant growth. We investigated the patterns of immunohistochemical E-cadherin expression in 120 breast carcinomas. Furthermore, we analysed DNA from the same samples for loss of heterozygosity (LOH) using three separate microsatellite markers on chromosome 16q22.1. Finally, the clinical outcome was ascertained for 108 patients. 19% (18/97) of infiltrating ductal carcinomas showed complete loss of E-cadherin expression compared with 64% (9/14) of infiltrating lobular carcinomas. LOH was detected in 46% (24/52) of infiltrating ductal carcinomas and 89% (8/9) of infiltrating lobular carcinomas. In the infiltrating lobular carcinomas, LOH was associated with complete loss of cell membrane expression of E-cadherin, although a cytoplasmic expression pattern was evident. In contrast, this association was not seen in the infiltrating ductal carcinomas. In a multivariate analysis, loss of E-cadherin expression was shown to be a significant independent risk factor for a poorer disease-free survival (P=0.019), in particular in the node-negative subset of patients (P=0.029). Significance was also approached for breast cancer corrected survival (P=0.056). We conclude that different mechanisms are involved in the altered E-cadherin expression seen in different subtypes of breast carcinomas. Furthermore, we implicate loss of E-cadherin, regardless of the genetic causes, as an independent prognostic marker for disease recurrence, especially in node-negative breast cancer patients, irrespective of the histological type.
PubMed ID
10854942 View in PubMed
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An algorithm for detecting high frequency copy number polymorphisms using SNP arrays.

https://arctichealth.org/en/permalink/ahliterature133202
Source
J Comput Biol. 2011 Aug;18(8):955-66
Publication Type
Article
Date
Aug-2011
Author
Bjarni V Halldórsson
Daníel F Gudbjartsson
Author Affiliation
School of Science and Engineering, Reykjavík University, Reykjavík, Iceland. bjarnivh@ru.is
Source
J Comput Biol. 2011 Aug;18(8):955-66
Date
Aug-2011
Language
English
Publication Type
Article
Keywords
Algorithms
Alleles
Base Pairing
Cluster analysis
Computational Biology - methods
DNA Copy Number Variations
Fluorescent Dyes - analysis
Gene Frequency
Genome, Human
Genome-Wide Association Study
Genotype
Humans
Iceland
Markov Chains
Microsatellite Repeats
Normal Distribution
Oligonucleotide Array Sequence Analysis - instrumentation - methods
Polymorphism, Single Nucleotide
Abstract
We present a general algorithm for the detection of genomic variants using the Illumina iSelect platform. The Illumina iSelect platform is designed to detect SNPs, but our algorithm allows for the detections of more general forms of variations, including copy number polymorphisms and microsatellites. The algorithm does not rely on a priori information of the type of polymorphism being studied and is designed to genotype call a large number of individuals simultaneously. The algorithm proceeds by initially normalizing intensity and correcting for batch effects. Then each marker is clustered using a modified Gaussian mixture model where we account for variances in the expression of an individuals and the variance measured in bead level intensities of a probe/marker pair. Finally, these clusters are used to determine genotypes. The algorithm was then run on a dataset of 35,000 Icelandic individuals.
PubMed ID
21728861 View in PubMed
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Analysis of 6 genetic loci for disease susceptibility in psoriatic arthritis.

https://arctichealth.org/en/permalink/ahliterature13776
Source
J Rheumatol. 2004 Nov;31(11):2230-5
Publication Type
Article
Date
Nov-2004
Author
Gerd-Marie Alenius
Camilla Friberg
Staffan Nilsson
Jan Wahlström
Solbritt Rantapää Dahlqvist
Lena Samuelsson
Author Affiliation
Department of Public Health and Clinical Medicine, Rheumatology, University Hospital, Umeå, Sweden. gerdmarie.alenius@vll.se
Source
J Rheumatol. 2004 Nov;31(11):2230-5
Date
Nov-2004
Language
English
Publication Type
Article
Keywords
Adult
Arthritis, Psoriatic - genetics - immunology - pathology
Autoimmunity - genetics
Chromosomes, Human, Pair 6
Genetic markers
Genetic Predisposition to Disease
Humans
Linkage Disequilibrium - genetics
Lymphotoxin - genetics
Microsatellite Repeats
Middle Aged
Polymorphism, Single Nucleotide
Research Support, Non-U.S. Gov't
Abstract
OBJECTIVE: To analyze the association of several autoimmune disease susceptibility loci in a population of patients with psoriasis and defined joint disease from northern Sweden. METHOD: One hundred twenty patients with psoriasis and defined joint disease were examined clinically, radiologically, and with laboratory-based analyses. Disease classification was based on peripheral and/or axial engagement. The tumor necrosis factor (TNF) locus, 1q21 (PSORS4), 3q21 (PSORS5), 8q24, 16q21, and the CTLA4 gene were analyzed using a total of 38 microsatellite markers and 2 single nucleotide polymorphisms (SNP). Ninety-four controls with the same ethnic background as the patients were randomly selected from the same region of Sweden. RESULTS: An association was found with one of the markers in the TNFB locus within the HLA region (p = 0.012, pc = 0.024). Three markers at the PSORS4 locus on chromosome 1q21 and 2 markers at the 8q24 locus showed nominal p values of
PubMed ID
15517637 View in PubMed
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