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  • Epistasis  (5)
  • Male  (3)
  • Marker-assisted selection  (3)
  • 1
    Publication Date: 2015-11-26
    Description: Ancient DNA makes it possible to observe natural selection directly by analysing samples from populations before, during and after adaptation events. Here we report a genome-wide scan for selection using ancient DNA, capitalizing on the largest ancient DNA data set yet assembled: 230 West Eurasians who lived between 6500 and 300 bc, including 163 with newly reported data. The new samples include, to our knowledge, the first genome-wide ancient DNA from Anatolian Neolithic farmers, whose genetic material we obtained by extracting from petrous bones, and who we show were members of the population that was the source of Europe's first farmers. We also report a transect of the steppe region in Samara between 5600 and 300 bc, which allows us to identify admixture into the steppe from at least two external sources. We detect selection at loci associated with diet, pigmentation and immunity, and two independent episodes of selection on height.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Mathieson, Iain -- Lazaridis, Iosif -- Rohland, Nadin -- Mallick, Swapan -- Patterson, Nick -- Roodenberg, Songul Alpaslan -- Harney, Eadaoin -- Stewardson, Kristin -- Fernandes, Daniel -- Novak, Mario -- Sirak, Kendra -- Gamba, Cristina -- Jones, Eppie R -- Llamas, Bastien -- Dryomov, Stanislav -- Pickrell, Joseph -- Arsuaga, Juan Luis -- de Castro, Jose Maria Bermudez -- Carbonell, Eudald -- Gerritsen, Fokke -- Khokhlov, Aleksandr -- Kuznetsov, Pavel -- Lozano, Marina -- Meller, Harald -- Mochalov, Oleg -- Moiseyev, Vyacheslav -- Guerra, Manuel A Rojo -- Roodenberg, Jacob -- Verges, Josep Maria -- Krause, Johannes -- Cooper, Alan -- Alt, Kurt W -- Brown, Dorcas -- Anthony, David -- Lalueza-Fox, Carles -- Haak, Wolfgang -- Pinhasi, Ron -- Reich, David -- GM100233/GM/NIGMS NIH HHS/ -- Howard Hughes Medical Institute/ -- England -- Nature. 2015 Dec 24;528(7583):499-503. doi: 10.1038/nature16152. Epub 2015 Nov 23.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. ; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA. ; Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA. ; Independent researcher, Santpoort-Noord, The Netherlands. ; School of Archaeology and Earth Institute, Belfield, University College Dublin, Dublin 4, Ireland. ; Institute for Anthropological Research, Zagreb 10000, Croatia. ; Department of Anthropology, Emory University, Atlanta, Georgia 30322, USA. ; Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland. ; Australian Centre for Ancient DNA, School of Biological Sciences &Environment Institute, University of Adelaide, Adelaide, South Australia 5005, Australia. ; Laboratory of Human Molecular Genetics, Institute of Molecular and Cellular Biology, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia. ; Department of Paleolithic Archaeology, Institute of Archaeology and Ethnography, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia. ; Centro Mixto UCM-ISCIII de Evolucion y Comportamiento Humanos, 28040 Madrid, Spain. ; Departamento de Paleontologia, Facultad Ciencias Geologicas, Universidad Complutense de Madrid, 28040 Madrid, Spain. ; Centro Nacional de Investigacion sobre Evolucion Humana (CENIEH), 09002 Burgos, Spain. ; IPHES. Institut Catala de Paleoecologia Humana i Evolucio Social, Campus Sescelades-URV, 43007 Tarragona, Spain. ; Area de Prehistoria, Universitat Rovira i Virgili (URV), 43002 Tarragona, Spain. ; Netherlands Institute in Turkey, Istiklal Caddesi, Nur-i Ziya Sokak 5, Beyog lu 34433, Istanbul, Turkey. ; Volga State Academy of Social Sciences and Humanities, Samara 443099, Russia. ; State Office for Heritage Management and Archaeology Saxony-Anhalt and State Museum of Prehistory, D-06114 Halle, Germany. ; Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) RAS, St Petersburg 199034, Russia. ; Department of Prehistory and Archaeology, University of Valladolid, 47002 Valladolid, Spain. ; The Netherlands Institute for the Near East, Leiden RA-2300, the Netherlands. ; Max Planck Institute for the Science of Human History, D-07745 Jena, Germany. ; Institute for Archaeological Sciences, University of Tubingen, D-72070 Tubingen, Germany. ; Danube Private University, A-3500 Krems, Austria. ; Institute for Prehistory and Archaeological Science, University of Basel, CH-4003 Basel, Switzerland. ; Anthropology Department, Hartwick College, Oneonta, New York 13820, USA. ; Institute of Evolutionary Biology (CSIC-Universitat Pompeu Fabra), 08003 Barcelona, Spain.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26595274" target="_blank"〉PubMed〈/a〉
    Keywords: Agriculture/history ; Asia/ethnology ; Body Height/genetics ; Bone and Bones ; DNA/genetics/isolation & purification ; Diet/history ; Europe/ethnology ; Genetics, Population ; Genome, Human/*genetics ; Haplotypes/genetics ; History, Ancient ; Humans ; Immunity/genetics ; Male ; Multifactorial Inheritance/genetics ; Pigmentation/genetics ; Selection, Genetic/*genetics ; Sequence Analysis, DNA
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 2
    Publication Date: 1997-08-22
    Description: It has been suggested that European Middle Pleistocene humans, Neandertals, and prehistoric modern humans had a greater sexual dimorphism than modern humans. Analysis of body size variation and cranial capacity variation in the large sample from the Sima de los Huesos site in Spain showed instead that the sexual dimorphism is comparable in Middle Pleistocene and modern populations.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Arsuaga, J L -- Carretero, J M -- Lorenzo, C -- Gracia, A -- Martinez, I -- Bermudez de Castro, J M -- Carbonell, E -- New York, N.Y. -- Science. 1997 Aug 22;277(5329):1086-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Departamento de Paleontologia, Instituto de Geologia Economica, Facultad de Ciencias Geologicas, Universidad Complutense de Madrid, Ciudad Universitaria 28040 Madrid, Spain.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/9262474" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; *Body Constitution ; Female ; *Fossils ; Hominidae/*anatomy & histology ; Humans ; Male ; *Sex Characteristics ; Skull/*anatomy & histology ; Spain
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 3
    Publication Date: 2016-03-16
    Description: A unique assemblage of 28 hominin individuals, found in Sima de los Huesos in the Sierra de Atapuerca in Spain, has recently been dated to approximately 430,000 years ago. An interesting question is how these Middle Pleistocene hominins were related to those who lived in the Late Pleistocene epoch, in particular to Neanderthals in western Eurasia and to Denisovans, a sister group of Neanderthals so far known only from southern Siberia. While the Sima de los Huesos hominins share some derived morphological features with Neanderthals, the mitochondrial genome retrieved from one individual from Sima de los Huesos is more closely related to the mitochondrial DNA of Denisovans than to that of Neanderthals. However, since the mitochondrial DNA does not reveal the full picture of relationships among populations, we have investigated DNA preservation in several individuals found at Sima de los Huesos. Here we recover nuclear DNA sequences from two specimens, which show that the Sima de los Huesos hominins were related to Neanderthals rather than to Denisovans, indicating that the population divergence between Neanderthals and Denisovans predates 430,000 years ago. A mitochondrial DNA recovered from one of the specimens shares the previously described relationship to Denisovan mitochondrial DNAs, suggesting, among other possibilities, that the mitochondrial DNA gene pool of Neanderthals turned over later in their history.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Meyer, Matthias -- Arsuaga, Juan-Luis -- de Filippo, Cesare -- Nagel, Sarah -- Aximu-Petri, Ayinuer -- Nickel, Birgit -- Martinez, Ignacio -- Gracia, Ana -- Bermudez de Castro, Jose Maria -- Carbonell, Eudald -- Viola, Bence -- Kelso, Janet -- Prufer, Kay -- Paabo, Svante -- England -- Nature. 2016 Mar 24;531(7595):504-7. doi: 10.1038/nature17405. Epub 2016 Mar 14.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, 04103 Leipzig, Germany. ; Centro de Investigacion Sobre la Evolucion y Comportamiento Humanos, Universidad Complutense de Madrid-Instituto de Salud Carlos III, 28029 Madrid, Spain. ; Departamento de Paleontologia, Facultad de Ciencias Geologicas, Universidad Complutense de Madrid, 28040 Madrid, Spain. ; Area de Paleontologia, Departamento de Geografia y Geologia, Universidad de Alcala, Alcala de Henares, 28871 Madrid, Spain. ; Centro Nacional de Investigacion sobre la Evolucion Humana, Paseo Sierra de Atapuerca, 09002 Burgos, Spain. ; Institut Catala de Paleoecologia Humana i Evolucio Social, C/Marcel.li Domingo s/n (Edifici W3), Campus Sescelades, 43007 Tarragona, Spain. ; Area de Prehistoria, Departament d'Historia i Historia de l'Art, Universitat Rovira i Virgili, Facultat de Lletres, Avinguda de Catalunya, 35, 43002 Tarragona, Spain. ; Department of Anthropology, University of Toronto, 19 Russell Street, Toronto, Ontario M5S 2S2, Canada.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26976447" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; DNA, Mitochondrial/genetics ; Fossils ; Genome, Mitochondrial/genetics ; Hominidae/classification/*genetics ; Male ; Neanderthals/classification/genetics ; *Phylogeny ; Sequence Alignment ; Spain
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 78 (1989), S. 567-580 
    ISSN: 1432-2242
    Keywords: Epistasis ; Tribolium ; Recurrent selection ; Heterosis ; Maternal effects
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary The genetic parameters of two quantitative traits, 13-day larval weight and pupal weight, in Tribolium populations developed by reciprocal recurrent selection (RRS) and by within-line purebred selection (WLS) were compared each with the other and also with the parameters of the unselected base populations using the genetic model of Carbonell, Nyquist and Bell. The variability for two and three-way crosses of inbred lines derived from “companion” populations (two strains, breeds, or varieties used for a terminal cross or hybrid) was analyzed into genetic effects: autosomal additivity (* g), autosomal heterosis (* s), sex-linked additivity (L), sex-linked heterosis (LL), general maternal (m), specific maternal or reciprocal (r), additive by additive epistasis (aa), and deviations from the model due, among other causes, to higher order epistasis (dev). One series of crosses involved companion populations with diverse origins. For contrast, a second series of crosses involved companion populations originating from a common heterogenous base population. For the heterotic trait larval weight, * g and * s effects were equally important and accounted for over 50% of the total variation. The aa epistasis contributed another 20% and was followed in importance by higher order epistasis and general maternal effects. For the more highly heritable trait, pupal weight, * g effects were most important with * s, aa, and m effects having smaller but significant influences. Sex-linked and reciprocal effects were statistically significant for many crosses, but they were relatively unimportant overall. In general, the unselected base populations showed higher * g variation than either RRS or WLS populations with the reverse true for * s effects. In agreement with theoretical expectations, RRS was more effective than WLS in exploiting * s effects. The aa epistatic effects for larval weight were of major importance in the unselected populations, but RRS and WLS did not differ significantly for exploiting superior aa gene combinations. Companion populations with diverse origins revealed significantly larger variation due to * g and * s effects in crosses than did populations initiated from a common heterogeneous base.
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 88 (1994), S. 395-401 
    ISSN: 1432-2242
    Keywords: Salt tolerance ; Lycopersicon ; Yield ; QTLs ; Molecular markers ; MAS ; Epistasis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract A segregating population derived from a cross between L. esculentum cv Madrigal and a line of L. pimpinellifolium was used to identify genetic markers linked to QTLs involved in salinity tolerance in terms of yield, under a conductivity of 15 dS/m (171.1 mM NaCl). Six markers resulted, associated with QTLs affecting average fruit weight, fruit number and total weight under salinity. One of them, Aco-1, behaves reversely to the expectation from parental means; this and other features make it a promising target to obtain salt-tolerant tomatoes. Epistatic interactions were also found, thus affecting the criteria for marker-assisted selection. Although only 41% of the loci assayed were polymorphic, a high efficiency in identifying QTLs was achieved, since 43% of the marker loci are linked to QTLs for the trait under study.
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 93 (1996), S. 765-772 
    ISSN: 1432-2242
    Keywords: Salt tolerance ; Tomato breeding ; Marker-assisted selection ; Molecular markers ; QTL mapping
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The usefulness of marker-assisted selection (MAS) to develop salt-tolerant breeding lines from a F2 derived from L. esculentum x L. pimpinellifolium has been studied. Interval mapping methodology of quantitative trait locus (QTL) analysis was used to locate more precisely previously detected salt tolerance QTLs. A new QTL for total fruit weight under salinity (TW) near TG24 was detected. Most of the detected QTLs [3 for TW, 5 for fruit number, (FN) and 4 for fruit weight (FW)] had low R 2 values, except the FW QTL in the TG180-TG48 interval, which explains 36.6% of the total variance. Dominant and overdominant effects were detected at the QTLs for TW, whereas gene effects at the QTLs for FJV and FW ranged from additive to partial dominance. Phenotypic selection of F2 familes and marker-assisted selection of F3 families were carried out. Yield under salinity decreased in the F2 generation. F3 means were similar to those of the F1 as a consequence of phentoypic selection. The most important selection response for every trait was obtained from the F3 to F4 where MAS was applied. While F3 variation was mainly due to the within-family component, in the F4 the FN and FW between-family component was larger than the within-family one, indicating an efficient compartmentalization and fixation of QTLs into the F4 families. Comparison of the yield of these families under control versus saline conditions showed that fruit weight is a key trait to success in tomato salt-tolerance improvement using wild Lycopersicon germplasm. The QTLs we have detected under salinity seem to be also working under control conditions, although the interaction family x treatment was significant for TW, thereby explaining the fact that the selected families responded differently to salinity.
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  • 7
    ISSN: 1432-2242
    Keywords: Key words CTV resistance ; Molecular markers ; Recombination ; Marker-assisted selection ; Fruit breeding
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  Two segregating populations for citrus tristeza virus (CTV) resistance derived from Poncirus trifoliata var ‘Flying Dragon’ by self-pollination and pollination to Citrus medica L. var ethrog ‘Arizona’ were inoculated with a common CTV isolate. The presence of virus was checked by the Double Antibody Sandwich Enzyme-Linked Assay and Direct Tissue Blot Inmunoassay at 3, 6, and 12 months after inoculation. Seven RAPDs were found linked to the CTV resistance gene by bulked segregant analysis. The closest linked RAPDs were cloned to obtain linked codominant RFLPs and to increase the precision of the genetic distance estimation. The CTV resistance gene seems to be located between cW18 and cK16. Differences in genetic distances among progenies are large and can be explained by genome-wide reduction in the recombination of progeny derived from male versus female gametes.
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 95 (1997), S. 691-695 
    ISSN: 1432-2242
    Keywords: Key words Closterovirus ; Cell-to-cell movement ; Molecular markers ; Marker-assisted selection ; Fruit-tree breeding
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  Citrus tristeza virus (CTV) causes important economic losses in the citrus industry worldwide. Resistance to CTV is present in Poncirus trifoliata and is known to be controlled by a dominant gene at the Ctr locus. Short-distance movement of CTV around the inoculum, as well as passive movement through the phloem vessels, were studied in segregant plants derived by self-pollination from P. trifoliata var. “Flying Dragon” in order to genetically analyze the mechanism of CTV resistance. Accumulation of CTV in the vicinity of the inoculum and in new flushes was studied by means of a direct tissue-blot immunoassay (DTBIA). CTV is able to passively move with the phloematic flux from inoculated resistant genotypes Ctr-Rr and Ctr-RR up to a susceptible scion cultivar (Ctr-rr). Differences regarding CTV accumulation around the inoculum were found among Ctr-Rr individuals of the progeny. Bulked segregant analysis identified five RAPD markers linked to a locus (Ctm), or a genomic region, involved in short-distance accumulation of CTV but located in a different linkage group from Ctr. This result indicates that Ctr is not the only locus responsible for resistance to CTV in P. trifoliata, and that at least one other gene is involved. Given that citrus is a perennial crop, breeding for durable disease resistance should take into account selection at both the Ctr and Ctm loci.
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  • 9
    ISSN: 1432-2242
    Keywords: Key words Yield components ; Earliness ; G×E ; Gene effects ; Wide adaptation ; Genetic markers ; MAS ; Epistasis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  A study of genotype-by-salinity interaction was carried out to compare the behavior of quantitative trait loci (QTLs) in two F2 populations derived from crosses between the cherry tomato, Lycopersicon esculentum Mill. var. cerasiforme, and two wild relatives Lycopersicon pimpinellifolium (Jusl.) Mill. and Lycopersicon chesmannii f. minor (Hook. f.) Mull., grown at two environmental conditions (optimum and high salinity). QTLs for earliness and fruit yield could be classified into four groups: “response-sensitive”, those detected only under control conditions or whose contribution significantly decreased in salinity; “response-tolerant”, detected only in salinity or in which the direction of their additive effects changed; “constitutive”, detected in both growing conditions; and “altered” QTLs, those where the degree of dominance changed according to the presence or absence of salt. Epistatic interactions were also influenced by the salt treatment. This differential allele effect at some (non-constitutive) QTLs induced by salt stress will make selection under an “optimum environment” unfruitful for the “response-tolerant” QTLs. Similarly, selection under salinity will ignore “response-sensitive” QTLs. Given that salinity is highly variable in the field, marker-assisted selection should take into account not only the “response-tolerant” but also the “response-sensitive” QTLs although there might be cases where selection in some QTLs for both conditions is not feasible. Comparing both populations, very few QTLs showed the same behavior.
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 98 (1999), S. 593-601 
    ISSN: 1432-2242
    Keywords: Key words QTLs ; Epistasis ; Genetic resources ; Plant height ; Regulatory genes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  The change from vegetative to reproductive development (earliness) in Lycopersicon chesmannii line L2 was delayed for 20 weeks when compared to other Lycopersicon species under greenhouse conditions. The interspecific hybrid of L. chesmannii L2 and L. esculentum E9, a cherry tomato cultivar, also showed this delay in reproductive development. The distribution of this character in the F2-derived population showed a bimodal shape, plants could be scored easily as “early” or “late” in two nutrient conditions (optimum and high salinity). A QTL with major effects on earliness was detected in salinity, which explained 35.6% of the phenotypic variation. The effect of this QTL greatly diminished under control conditions, indicating differences in the genetic control of earliness between treatments. ACC synthase or phytochrome B2 are the products of candidate genes for such a major QTL. Other QTLs with minor effects, and epistatic interactions, are also involved in earliness under both conditions. A “late” F2 subpopulation yielded twice as much as an “early” F2; conversely, “early” plants were taller than “late” plants, regardless of the treatment. QTL analysis, carried out in both subpopulations, showed that yield differences may be explained by chesmannii alleles showing negative additive effects at some QTLs only in the “early” subpopulation. The effect of population subdivision on QTL analysis was investigated by computer simulations to show sample-size or random effects; thus, important pleiotropic or regulatory effects of genes controlling earliness on yield that affect QTL analysis, have been reveiled. Therefore alleles controlling earliness in L. chesmannii have to be taken into account for a more efficient utilization of the genetic resources of this species.
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