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Mukherjee Ayan A a Animal Genomics Lab, Animal Biotechnology Center , National Dairy Research Institute , Karnal , - - 2015
The removal of crossbred bulls from semen collection programs due to the production of poor quality semen causes substantial monetary losses to the dairy industry. Seminal quality, a quantitative trait, is greatly influenced by genome level variations. Deletion and/or duplication of Y chromosomal genes and subsequent changes in gene copy ...
Feng Xiu X State Key Laboratory of Freshwater Ecology and Biotechnology, Institute of Hydrobiology, Chinese Academy of Sciences, Wuhan, 430072, China, - - 2014
Gene-centromere (G-C) mapping provides insights into the understanding of the composition, structure, and evolution of vertebrate genomes. Common carp (Cyprinus carpio) is an important aquaculture fish and has been proposed to undertake tetraploidization. In this study, we selected 214 informative microsatellite markers across 50 linkage groups of a common carp ...
Prashar Ankush A The James Hutton Institute, Invergowrie, Dundee, DD2 5DA, - - 2014
Generation of a dense SNP-based linkage map of a diploid potato population and identification of major QTLs for tuber shape and eye depth on chromosomes 2 and 10. This paper reports the construction of a genetic map of a highly heterozygous full-sib diploid potato population (06H1) based on the use ...
Westerlind Helga H Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, - - 2014
In an attempt to map chromosomal regions carrying rare gene variants contributing to the risk of multiple sclerosis (MS), we identified segments shared identical-by-descent (IBD) using the software BEAGLE 4.0's refined IBD analysis. IBD mapping aims at identifying segments inherited from a common ancestor and shared more frequently in case-case ...
Storchova Zuzana Z Group Maintenance of Genome Stability, Max Planck Institute of Biochemistry, Am Klopferspitz 18, 82152, Martinsried, - - 2014
Eukaryotic organisms maintain karyotypes with constant chromosome number, but polyploid cells that contain more than two sets of chromosomes can be frequently found. On one hand, polyploidization is likely to provide some beneficial effects, as naturally occurring polyploid cells can be readily found. On the other hand, polyploidization profoundly affects ...
Charalsawadi Chariyawan C Department of Pathology, Prince of Songkla University, Songkhla, - - 2014
Autistic spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by impairments of social interaction, communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. Frequencies of chromosomal abnormalities in cohorts of individuals with ASD varying between 1.2 and 28.6% have been reported. In this study, we ...
Li Xuehui X Samuel Roberts Noble - - 2014
A genetic linkage map is a valuable tool for QTL mapping, map-based gene cloning, comparative mapping, and whole genome assembly. Alfalfa, one of the most important forage crops in the world, is autotetraploid, allogamous, and highly heterozygous, characteristics that have impeded the construction of a high density linkage map using ...
Fricano Agostino A Parco Tecnologico Padano; Università degli Studi di Milano; Bayer - - 2014
Triticum monococcum (genome A(m)) and Triticum urartu (genome A(u)) are diploid wheats with the first having been domesticated in the Neolithic Era and the second being a wild species. In a germplasm collection rare wild T. urartu lines with the presence of T. monococcum alleles were found. This stimulated our ...
Carmi Shai S Department of Computer Science, Columbia University, New York, NY, 10027, USA. Electronic address: - - 2014
A long genomic segment inherited by a pair of individuals from a single, recent common ancestor is said to be identical-by-descent (IBD). Shared IBD segments have numerous applications in genetics, from demographic inference to phasing, imputation, pedigree reconstruction, and disease mapping. Here, we provide a theoretical analysis of IBD sharing ...
Yakimowski Sarah B SB Department of Botany and Biodiversity Research Centre, University of British Columbia, Vancouver, BC V6T 1Z4, - - 2014
While homoploid hybridization was viewed as maladaptive by zoologists, the possibility that it might play a creative role in evolution was explored and debated by botanists during the evolutionary synthesis. Owing to his synthetic work on the ecological and genetic factors influencing the occurrence and effects of hybridization, G. Ledyard ...
Delmore Kira E KE Department of Zoology, University of British Columbia, 6270 University Blvd, Vancouver, British Columbia, Canada, - - 2014
Migratory divides are contact zones between populations that use different routes to navigate around unsuitable areas on seasonal migration. Hybrids in divides have been predicted to employ intermediate and potentially inferior routes. We provide the first direct test of this hypothesis, using light-level geolocators to track birds breeding in a ...
Yan Shi S State Key Laboratory of Genetic Engineering, and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China; Chinese Academy of Sciences Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, SIBS, CAS, Shanghai, - - 2014
Demographic change of human populations is one of the central questions for delving into the past of human beings. To identify major population expansions related to male lineages, we sequenced 78 East Asian Y chromosomes at 3.9 Mbp of the non-recombining region, discovered >4,000 new SNPs, and identified many new ...
Ambros Inge M IM Children's Cancer Research Institute, St. Anna Kinderkrebsforschung , Vienna , - - 2014
Neuroblastoma serves as a paradigm for applying tumor genomic data for determining patient prognosis and thus for treatment allocation. MYCN status, i.e., amplified vs. non-amplified, was one of the very first biomarkers in oncology to discriminate aggressive from less aggressive or even favorable clinical courses of neuroblastoma. However, MYCN amplification ...
Trkova Marie - - 2012
Jacobsen syndrome (JBS) is a rare chromosomal disorder caused by terminal deletion of the long arm of chromosome 11. We report on four prenatally diagnosed patients with JBS with variable prenatal and postnatal phenotypes and 11q deletions of varying sizes. Precise characterization of the deleted region in three patients was ...
Svartman M - - 2012
Afrotheria is the clade of placental mammals that, together with Xenarthra, Euarchontoglires and Laurasiatheria, represents 1 of the 4 main recognized supraordinal eutherian clades. It reunites 6 orders of African origin: Proboscidea, Sirenia, Hyracoidea, Macroscelidea, Afrosoricida and Tubulidentata. The apparently unlikely relationship among such disparate morphological taxa and their possible ...
Begemann Matthias - - 2012
Among the clusters of imprinted genes in humans, one of the most relevant regions involved in human growth is localised in 11p15. Opposite epigenetic and genomic disturbances in this chromosomal region contribute to two distinct imprinting disorders associated with disturbed growth, Silver-Russell and Beckwith-Wiedemann syndromes. Due to the complexity of ...
Gomez Federico H - - 2012
Abstract Purpose: The aim of this study is to investigate tolerance to UV-C (ultraviolet C, 280 nm - 100 nm) radiation in Drosophila melanogaster, implementing a quantitative trait locus (QTL) mapping approach. This is of interest to test for genetic variation in survival to UV (ultraviolet) radiation. Materials and methods: ...
Willemsen Marjolein H - - 2012
Genome-wide array studies are now routinely being used in the evaluation of patients with cognitive disorders (CD) and/or congenital anomalies (CA). Therefore, inevitably each clinician is confronted with the challenging task of the interpretation of copy number variations detected by genome-wide array platforms in a diagnostic setting. Clinical interpretation of ...
Laffin Jennifer J S - - 2012
The goal of this study was to identify new candidate genes and genomic copy-number variations associated with a rare, severe, and persistent speech disorder termed childhood apraxia of speech. Childhood apraxia of speech is the speech disorder segregating with a mutation in FOXP2 in a multigenerational London pedigree widely studied ...
Zong Guo - - 2012
1000-Grain weight and spikelet number per panicle are two important components for rice grain yield. In our previous study, eight quantitative trait loci (QTLs) conferring spikelet number per panicle and 1000-grain weight were mapped through sequencing-based genotyping of 150 rice recombinant inbred lines (RILs). In this study, we validated the ...
Chen G D - - 2012
Traits related to spike morphology (SM), including grain density (GD), spike length (SL) and awn length (AL), are of central importance in cereal improvement. A recent study based on a two-row landrace of barley, TX9425, detected QTL controlling all of the three traits in a similar region on the long ...
Kloosterman Wigard P - - 2012
Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks ...
Heneen Waheeb K - - 2012
Brassica rapa and B. oleracea are the progenitors of oilseed rape B. napus. The addition of each chromosome of B. oleracea to the chromosome complement of B. rapa results in a series of monosomic alien addition lines (MAALs). Analysis of MAALs determines which B. oleracea chromosomes carry genes controlling specific ...
Zhang Han - - 2012
It has been known for decades that centromere size varies across species, but the factors involved in setting centromere boundaries are unknown. As a means to address this question, we estimated centromere sizes in ten species of the grass family including rice, maize, and wheat, which diverged 60~80 million years ...
Ronin Y - - 2012
Numerous mapping projects conducted on different species have generated an abundance of mapping data. Consequently, many multilocus maps have been constructed using diverse mapping populations and marker sets for the same organism. The quality of maps varies broadly among populations, marker sets, and software used, necessitating efforts to integrate the ...
Medarde N - - 2012
Several long-term temporal analyses of the structure of Robertsonian (Rb) hybrid zones in the western house mouse, Mus musculus domesticus, have been performed. Nevertheless, the detection of gradual or very rapid variations in a zone may be overlooked when the time elapsed between periods of study is too long. The ...
Kaewkong Worasak - - 2012
Opisthorchis viverrini, a human liver fluke, has been categorized as the carcinogenic organism according to the strong association with carcinogenesis of cholangiocarcinoma (CCA). The infection of this food-borne parasite is a major impact on the health of humans, especially CCA patients in the northeast of Thailand. Taxonomy, morphology, epidemiology and ...
Kasai Fumio - - 2012
The genome size in turtles and crocodiles is thought to be much larger than the 1.2 Gb of the chicken (Gallus gallus domesticus, GGA), according to the animal genome size database. However, GGA macrochromosomes show extensive homology in the karyotypes of the red eared slider (Trachemys scripta elegans, TSC) and ...
Wesche Philipp L - - 2012
SummaryUsing a dataset of karyotypic changes reported for bovids and the house mouse (Mus musculus domesticus) together with information from the cattle (Bos taurus) and mouse genomes, we examined two principal variables that have been proposed to predict chromosomal positioning in the nucleus, chromosome size and GC content. These were ...
Fu Rongtao - - 2012
The target pathogen Villosiclava virens (teleomorph: claviceps oryzae-sativae) was isolated from the infected rice, where it caused false smut. In our study, the forming processes of the chlamydospores, chlamydospore balls, conidiospores, and secondary conidiospores during the asexual reproduction were observed more precisely and in greater detail than previous descriptions. The ...
Zhang Xianghui - - 2012
Fusarium head blight (FHB), mainly caused by Fusarium graminearum, is a destructive disease that can significantly reduce grain yield and quality. Deployment of quantitative trait loci (QTLs) for FHB resistance in commercial cultivars has been the most effective approach for minimizing the disease losses. 'Baishanyuehuang' is a highly FHB-resistant landrace ...
Ying Jie-Zheng - - 2012
Rice grain shape, grain length (GL), width (GW), thickness (GT) and length-to-width ratio (LWR), are usually controlled by multiple quantitative trait locus (QTL). To elucidate the genetic basis of extremely large grain shape, QTL analysis was performed using an F(2) population derived from a cross between a japonica cultivar 'JZ1560' ...
Peñaherrera M S - - 2012
Inactivation of the maternally or paternally derived X chromosome (XCI) initially occurs in a random manner in early development; however as tissues form, a 'patchiness' will occur in terms of which X is inactivated if cells positioned near each other are clonally descended from a common precursor. Determining the relationship ...
Matsushita Starr C - - 2012
Polyploidization is an important mechanism for introducing diversity into a population and promoting evolutionary change. It is believed that most, if not all, angiosperms have undergone whole genome duplication events in their evolutionary history, which has led to changes in genome structure, gene regulation, and chromosome maintenance. Previous studies have ...
Rutkowska Joanna - - 2012
The well-established view of the evolution of sex chromosome dimorphism is of a gradual genetic and morphological degeneration of the hemizygous chromosome. Yet, no large-scale comparative analysis exists to support this view. Here, we analysed karyotypes of 200 bird species to test whether the supposed directional changes occur in bird ...
Roesti Marius - - 2012
Evolutionary diversification is often initiated by adaptive divergence between populations occupying ecologically distinct environments while still exchanging genes. The genetic foundations of this divergence process are largely unknown and are here explored through genome scans in multiple independent lake-stream population pairs of threespine stickleback. We find that across the pairs, ...
Nowicka Anna - - 2012
Carrot ( Daucus carota L.) chromosomes are small and poorly differentiated in size and morphology. Here we demonstrate that fluorescent in situ hybridization (FISH) signals derived from arbitrary PCR probes can be used for chromosome identification in carrot. To prepare probes, we searched for nonpolymorphic products abundantly amplified with arbitrary ...
Rashidi-Nezhad Ali - - 2012
The 2q3 duplication and 4q3 deletion syndromes are two conditions with variable phenotypes including Pierre-Robin sequence (PRS), limb anomalies, congenital heart defects (CHD), developmental delays and intellectual disabilities. We describe a patient born to a mother with a balanced t(2; 4) translocation who combines both a 2q34-qter duplication and a ...
Andersen Erik C EC Lewis-Sigler Institute for Integrative Genomics, Princeton University, New Jersey, - - 2012
The nematode Caenorhabditis elegans is central to research in molecular, cell and developmental biology, but nearly all of this research has been conducted on a single strain of C. elegans. Little is known about the population genomic and evolutionary history of this species. We characterized C. elegans genetic variation using ...
Dulik Matthew C - - 2012
The Altai region of southern Siberia has played a critical role in the peopling of northern Asia as an entry point into Siberia and a possible homeland for ancestral Native Americans. It has an old and rich history because humans have inhabited this area since the Paleolithic. Today, the Altai ...
Setti Amanda S - - 2012
The aim of this prospective randomized study was to determine if the use of intracytoplasmic morphologically selected sperm injection (IMSI) is associated with gender incidence. Couples who underwent IVF-preimplantation genetic screening (PGS) cycles, as a result of advanced maternal age, were randomly allocated into two groups: intracytoplasmic sperm injection (ICSI; ...
Kikuchi Yohei Y Department of Bioengineering, Tokyo Institute of Technology, O-okayama, Meguro-ku, Tokyo 152-8551, - - 2012
In starfish oocytes, microtubules (MTs) form a spindle, which plays an important role in contributing to the selective loss of chromosomes and centrosomes to the polar bodies (PBs) during meiosis. When Taxol was locally injected near the germinal vesicle (GV) or the mitotic apparatus during meiosis I, PB formation was ...
Mizutani Eiji - - 2012
To clarify the causes of the poor success rate of somatic cell nuclear transfer (SCNT), we addressed the impact of abnormalities observed at early cleavage stages of development on further full-term development using 'less-damage' imaging technology. To visualize the cellular and nuclear division processes, SCNT embryos were injected with a ...
Pina Cara C Department of Ophthalmology, Center for Vision Research, SUNY Eye Institute, SUNY Upstate Medical University, Syracuse, New York 13210, - - 2012
We report here the construction of Tubby-RFP balancers for the X, 2nd and 3rd chromosomes of Drosophila melanogaster. The insertion of a 2xTb-RFP transgene on the FM7c, CyO, and TM3 balancer chromosomes introduces two easily scorable, dominant, developmental markers. The strong Tb phenotype is visible to the naked eye at ...
Bliss Barbara J - - 2012
Anthurium is an important horticultural crop from the family Araceae, order Alismatales, a lineage considered to have diverged from other monocots prior to the cereals. Genome size and its distribution in Anthurium were investigated to gain a basic understanding of genome organization in this large genus and to forge a ...
Danusevičius Darius - - 2012
We address the problem of spontaneous hybridization between an exotic species Pinus mugo and the native/local P. sylvestris at the seaside spit of Kursiu Nerija in Lithuania. The objective was to identify spontaneous hybrids between P. mugo and P. sylvestris based on morphology traits among the individuals naturally regenerating at ...
Bonaccorsi Silvia - - 2012
This protocol describes formaldehyde fixation of Drosophila testes. The procedure preserves chromosome morphology very well, allowing a clear visualization of the chromosome condensation-decondensation cycle. It also results in excellent preservation of microtubules for immunostaining. The main disadvantage of this fixation technique is its poor preservation of cell morphology, as viewed ...
Halder Ashutosh - - 2012
We report on a pair of male monozygotic twins with 22q11.2 microdeletion, discordant phenotype and discordant deletion size. The second twin had findings suggestive of DiGeorge syndrome, while the first twin had milder anomalies without any cardiac malformation. The second twin had presented with intractable convulsion, cyanosis and cardiovascular failure ...
Abramov Alexei V - - 2012
Karyotypes of Hapalomys delacouri (Rodentia, Muridae) and Typhlomys cinereus (Rodentia, Platacanthomyidae) from Vietnam are described for the first time. The diploid karyotype of Hapalomys delacouri is 38 (NFa=48), consisting of six pairs of bi-armed and 12 pairs of acrocentric autosomes decreasing in size; plus a large metacentric X chromosome and ...
E Silva Carlos Eduardo Faresin - - 2012
The aim was to characterize the karyotype of rodents of the genus Proechimys from three localities in the central Brazilian Amazon, in the search for new markers that might shed light on our understanding of the taxonomy and evolutionary history of this taxon. Two karyotypes were found, viz., 2n = ...
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