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Parker Margaret M MM Department of Epidemiology, Bloomberg School of Public Health, The Johns Hopkins University, Baltimore, Maryland, United States of - - 2014
African Americans are admixed with genetic contributions from European and African ancestral populations. Admixture mapping leverages this information to map genes influencing differential disease risk across populations. We performed admixture and association mapping in 3,300 African American current or former smokers from the COPDGene Study. We analyzed estimated local ancestry ...
Ma Deqiong D Molecular Pathology and Cytogenetics Lab, Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, 1635 Poplar Street, Bronx, NY 10461 - - 2014
Reports of interstitial deletions involving proximal long arm of chromosome 2 are limited. Based on early chromosomal analysis studies, the phenotypic consequence of deletions at the ancestral chromosome fusion site at chromosome 2q13q14.1 remains unclear. A recurrent 1.71 Mb deletion at 2q13 has recently been proposed as a new genomic disorder, ...
Ohno Tamio - - 2012
Asthma is regarded as a multifactorial inflammatory disorder arising as a result of inappropriate immune responses in genetically susceptible individuals to common environmental antigens. However, the precise molecular basis is unknown. To identify genes for susceptibility to three asthma-related traits, airway hyperresponsiveness (AHR), eosinophil infiltration, and allergen-specific serum IgE levels, ...
Shearman J R - - 2011
An autosomal recessive form of cerebellar abiotrophy occurs in Australian Kelpie dogs. Clinical signs range from mild ataxia with intention tremor to severe ataxia with seizures. A whole-genome mapping analysis was performed using Affymetrix Canine SNP array v2 on 11 affected and 19 control dogs, but there was no significant ...
Ding Z-L - - 2012
Global mitochondrial DNA (mtDNA) data indicates that the dog originates from domestication of wolf in Asia South of Yangtze River (ASY), with minor genetic contributions from dog-wolf hybridisation elsewhere. Archaeological data and autosomal single nucleotide polymorphism data have instead suggested that dogs originate from Europe and/or South West Asia but, ...
Philipp Ute - - 2011
Persistent right aortic arch (PRAA) is a congenital vascular ring anomaly common in several dog breeds. In German Pinscher, the disorder is characterized by a left retroesophageal subclavian artery in combination with a ligamentum arteriosum originating at the aberrant left subclavian artery (PRAA-SA-LA). In this study, we genotyped 38 microsatellite ...
Hultin Jäderlund K - - 2011
Although reporting the same clinical phenotype, inherited polyneuropathy in Leonberger dogs (ILPN) has been attributed to various modes of inheritance. The ILPN is one disease with a major risk factor on chromosome X. Dogs affected by ILPN (n = 104). Pedigree analyses were performed by means of a case-control approach. Data were ...
Reimann-Berg N - - 2011
Human and canine lymphoid neoplasms are characterized by non-random cytogenetic abnormalities. However, due to the low mitotic activity of the B cells, cytogenetic analyses of B-cell lymphoid proliferations are difficult to perform. In the present study we stimulated canine B-cell lymphoma cells with the immunostimulatory CpG-oligonucleotide DSP30 in combination with ...
Brown Sarah K - - 2011
Modern genetic samples are commonly used to trace dog origins, which entails untested assumptions that village dogs reflect indigenous ancestry or that breed origins can be reliably traced to particular regions. We used high-resolution Y chromosome markers (SNP and STR) and mitochondrial DNA to analyze 495 village dogs/dingoes from the ...
Quilez Javier J Molecular Genetics Veterinary Service (SVGM), Department of Animal and Food Science, Veterinary School, Universitat Autònoma de Barcelona (UAB), 08193 Bellaterra, Barcelona, Spain. - - 2011
Modern dog breeds display traits that are either breed-specific or shared by a few breeds as a result of genetic bottlenecks during the breed creation process and artificial selection for breed standards. Selective sweeps in the genome result from strong selection and can be detected as a reduction or elimination ...
Abdel-Haleem Hussein - - 2010
Drought stress adversely affects soybean at various developmental stages, which collectively results in yield reduction. Unpredictable rainfall has been reported to contribute about 36% to variation of yield difference between the rain-fed and irrigated fields. Among the drought resistance mechanisms, drought avoidance in genotypes with fibrous roots was recognized to ...
Matsuba Chikako - - 2010
We show that the recombination rate between the sex chromosomes is controlled by phenotypic, rather than genotypic, sex in sex-reversed common frogs. This supports the recent hypothesis that in ectothermic vertebrates sex reversal can prevent the progressive accumulation of mutations to nonrecombining Y chromosomes and their subsequent evolutionary decay.
Alpár Donát - - 2010
A 12-year-old male with pre-B-cell acute lymphoblastic leukemia with cryptic BCR/ABL rearrangement underwent sex-mismatched allogeneic bone marrow transplantation (allo-BMT). Contradictory results were provided by various chimerism analyses 3 months later. Y-chromosome-specific quantitative polymerase chain reaction and sex chromosome-specific interphase fluorescence in situ hybridization (i-FISH) showed complete donor chimerism. Analysis of ...
Brothers Amanda N - - 2010
Haldane's rule is an empirical phenomenon that has been observed in animals with sex chromosomes. The rule states that the heterogametic sex (XY or ZW) will be “absent, rare, or sterile” following hybridization between two species. Despite the near ubiquity of Haldane's rule in animal hybridizations, it has not been ...
Spigler Rachel B - - 2011
The rise of sexual dimorphism is thought to coincide with the evolution of sex chromosomes. Yet because sex chromosomes in many species are ancient, we lack empirical evidence of the earliest stages of this transition. We use QTL analysis to examine the genetic architecture of sexual dimorphism in subdioecious octoploid ...
Booth Warren - - 2011
Parthenogenesis in vertebrates is considered an evolutionary novelty. In snakes, all of which exhibit genetic sex determination with ZZ : ZW sex chromosomes, this rare form of asexual reproduction has failed to yield viable female WW offspring. Only through complex experimental manipulations have WW females been produced, and only in ...
Gattringer Cornelia - - 2010
We report here two cases of men, aged 46 and 23 years, with refractory chronic venous leg ulcers in association with sex chromosome aberrations: one with a 47,XXY/48,XXXY karyotype (Klinefelter syndrome) and the other with a 47,XYY karyotype (Jacob syndrome). In both patients, the occurrence of leg ulcers was the ...
Cioffi M B - - 2011
The processes working on sex chromosome differentiation are still not completely understood. However, the accumulation of repetitive DNA sequences has been shown to be one of the first steps in the early stages of such differentiation. In addition, regions with suppressed or no recombination have a potential to accumulate these ...
Murray Sheryl M SM Department of Biology, Johns Hopkins University, 3400 N. Charles St., Baltimore, MD 21218, - - 2010
Sex determination is regulated very differently in the soma vs. the germline, yet both processes are critical for the creation of the male and female gametes. In general, the soma plays an essential role in regulating sexual identity of the germline. However, in some species, such as Drosophila and mouse, ...
Chow Jennifer C - - 2010
Dosage compensation is a strategy to deal with the imbalance of sex chromosomal gene products relative to autosomes and also between the sexes. The mechanisms that ensure dosage compensation for X-chromosome activity have been extensively studied in mammals, worms, and flies. Although each entails very different mechanisms to equalize the ...
Janes Daniel E - - 2011
Variability among sex chromosome pairs in amniotes denotes a dynamic history. Since amniotes diverged from a common ancestor, their sex chromosome pairs and, more broadly, sex-determining mechanisms have changed reversibly and frequently. These changes have been studied and characterized through the use of many tools and experimental approaches but perhaps ...
Lee Bo-Young BY Laboratory of Bioinformatics and Population Genetics, Department of Food and Animal Biotechnology, Seoul National University, Seoul, 151-742, Republic of - - 2011
Identification of the sex-determining genes of the Nile tilapia (Oreochromis niloticus) has important implications for commercial aquaculture. We previously identified an XX/XY sex-determining locus in this species within a 10-cM interval between markers GM201 and UNH995 on linkage group one (LG1). In order to refine this region, we developed new ...
Goldberg Margot T - - 2010
Separate sexes have evolved repeatedly from hermaphroditic ancestors in flowering plants, and thus select taxa can provide unparalleled insight into the evolutionary dynamics of sex chromosomes that are thought to be shared by plants and animals alike. Here we ask whether two octoploid sibling species of wild strawberry--one almost exclusively ...
Kaiser Vera B - - 2010
Recombination restriction between evolving sex chromosomes leads to the degeneration of the chromosome that is present only in the heterogametic sex (the Y chromosome in XY species). The evolutionary forces driving Y chromosome degeneration, however, are still under debate and include positive and negative selection models. In a recent study, ...
Nascimento Juliana - - 2010
Heteromorphisms between sex chromosomes are rarely found in anurans and sex chromosome differentiation is considered to be a set of recent recurrent events in the evolutionary history of this group. This paper describes for the first time heteromorphic sex chromosomes Z and W in the leiuperid genus Physalaemus. They were ...
Luptáková Lenka - - 2011
One of the first questions asked about excavated human skeletal remains is the sex. As the morphological sex determination is complicated in cases involving fragmentary bones and in skeletons from infants and children, the development of DNA-based techniques has led to improvements in sex determination. This study is focused on ...
Pirrotta Vincenzo - - 2010
The dosage of X and Y chromosome genes varies systematically in males and females. In mammals, X inactivation largely compensates for this, but in this issue of Developmental Cell, Wijchers et al. show that the expression of hundreds of autosomal genes is still influenced by sex chromosome dosage, independently of physiological ...
Wijchers Patrick J PJ Gene Control Mechanisms and Disease Group, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Campus, Du Cane Road, London W12 0NN, - - 2010
Differences between males and females are normally attributed to developmental and hormonal differences between the sexes. Here, we demonstrate differences between males and females in gene silencing using a heterochromatin-sensitive reporter gene. Using "sex-reversal" mouse models with varying sex chromosome complements, we found that this differential gene silencing was determined ...
Nemetschke Linda - - 2010
When chromatin diminution occurs during a cell division a portion of the chromatin is eliminated, resulting in daughter cells with a smaller amount of genetic material. In the parasitic roundworms Ascaris and Parascaris, chromatin diminution creates a genetic difference between the soma and the germline. However, the function of chromatin ...
Pokorná Martina - - 2010
The eyelid geckos (family Eublepharidae) include both species with temperature-dependent sex determination and species where genotypic sex determination (GSD) was suggested based on the observation of equal sex ratios at several incubation temperatures. In this study, we present data on karyotypes and chromosomal characteristics in 12 species (Aeluroscalabotes felinus, Coleonyx ...
Traut Walther - - 2010
The phorid fly Megaselia scalaris is a laboratory model for the turnover and early differentiation of sex chromosomes. Isolates from the field have an XY sex-determining mechanism with chromosome pair 2 acting as X and Y chromosomes. The sex chromosomes are homomorphic but display early signs of sex chromosome differentiation: ...
Han Sang-Hyun - - 2010
we analyzed the sex chromosome-encoding ZFX-ZFY genes and tested molecular sexing using the amplification patterns of intron 9 of ZFX-ZFY in the horse. the amplification of the ZFX-ZFY produced two distinct patterns, reflecting sexual dimorphism based on a length difference between the X and Y chromosomes. The amplification products from ...
O'Meally Denis - - 2010
Snake sex chromosomes provided Susumo Ohno with the material on which he based his theory of how sex chromosomes differentiate from autosomal pairs. Like birds, snakes have a ZZ male/ZW female sex chromosome system, in which the snake Z is a macrochromosome much the same size as the bird Z. ...
Ironside Joseph E - - 2010
Although sexual antagonism may have played a role in forming some sex chromosome systems, there appears to be little empirical or theoretical justification in assuming that it is the driving force in all cases of sex chromosome evolution. In many species, sex chromosomes have diverged in size and shape through ...
Acosta M J - - 2011
Sex chromosome evolution in mammals has been extensively investigated through chromosome-painting analyses. In some rodent species from the subfamily Arvicolinae the sex chromosomes contain remarkable features such as giant size, a consequence of heterochromatic enlargement, or asynaptic behaviour during male meiosis. Here, we have made a comparative study of the ...
Yoshido A - - 2011
Geographical subspecies of wild silkmoths, Samia cynthia ssp. (Lepidoptera: Saturniidae), differ considerably in sex chromosome constitution owing to sex chromosome fusions with autosomes, which leads to variation in chromosome numbers. We cloned S. cynthia orthologues of 16 Bombyx mori genes and mapped them to chromosome spreads of S. cynthia subspecies ...
Toups Melissa A - - 2010
The mosquito Anopheles gambiae has heteromorphic sex chromosomes, while the mosquito Aedes aegypti has homomorphic sex chromosomes. We use retrotransposed gene duplicates to show an excess of movement off the An. gambiae X chromosome only after the split with Ae. aegypti, suggesting that their ancestor had homomorphic sex chromosomes.
Bellott Daniel W DW Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, Massachusetts 02142, - - 2010
In birds, as in mammals, one pair of chromosomes differs between the sexes. In birds, males are ZZ and females ZW. In mammals, males are XY and females XX. Like the mammalian XY pair, the avian ZW pair is believed to have evolved from autosomes, with most change occurring in ...
Rosenthal N F - - 2010
Genetic sex typing of vertebrate animals is an essential technique for research on reproductive phenomena such as sex determination of embryonic tissues. Polymerase chain reaction amplification of genomic DNA segments in the Z and W sex chromosomes has been widely used as a standard laboratory method to determine genetic sex ...
Henning F - - 2011
The genus Eigenmannia comprises several species groups that display a surprising variety of diploid chromosome numbers and sex-determining systems. In this study, hypotheses regarding phylogenetic relationships and karyotype evolution were investigated using a combination of molecular and cytogenetic methods. Phylogenetic relationships were analyzed for 11 cytotypes based on sequences from ...
Kaiser V B - - 2011
We describe patterns of DNA sequence diversity in a newly identified sex-linked gene, SlX9/SlY9, in Silene latifolia (Caryophyllaceae). The copies on both sex chromosomes seem to be functional, and each maps close to the respective X- and Y-linked copy of another sex-linked gene pair, SlCypX/SlCypY. The Y-linked copy has low ...
Kejnovsky E - - 2010
This review summarizes older as well as recent data about the model dioecious plant Silene latifolia. This plant has been the subject of more than one hundred years of research efforts and its most conspicuous property is huge and well differentiated heteromorphic sex chromosomes, XX in females and XY in ...
Davis Jamie K JK Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, - - 2010
A hallmark feature of the male-specific region of the human Y chromosome is the presence of large and near-identical palindromes. These palindromes are maintained in a state of near identity via gene conversion between the arms of the palindrome, and both neutral and selection-based theories have been proposed to explain ...
Qiu Suo - - 2010
The plant Silene latifolia has separate sexes and sex chromosomes, and is of interest for studying the early stages of sex chromosome evolution, especially the evolution of non-recombining regions on the Y chromosome. Hitch-hiking processes associated with ongoing genetic degeneration of the non-recombining Y chromosome are predicted to reduce Y-linked ...
Liu Huanmin - - 2010
Here we report our study on two new karyotypes and C-bandings of M. m. faeceus. Our study shows that there are polymorphisms in the X chromosome of M. m. faeceus (Rodentia), which exibitsubtelocentric X(ST), metacentric X(M) and submetacentric X(SM) patterns, respectively. One new karyotype formula is: 2n = 49 = ...
Ottesen Anne Marie - - 2010
Tall stature and eunuchoid body proportions characterize patients with 47,XXY Klinefelter syndrome, whereas patients with 45,X Turner syndrome are characterized by impaired growth. Growth is relatively well characterized in these two syndromes, while few studies describe the growth of patients with higher grade sex chromosome aneuploidies. It has been proposed ...
Connallon Tim - - 2010
Several sexual selection models predict that females will obtain indirect genetic benefits by preferentially mating with males that transmit high-quality genes to their offspring. However, despite widespread observations of additive population genetic variation for fitness as well as for male sexually selected traits, estimated fitness associations between fathers and offspring ...
Castillo Elio R D - - 2010
We report the results of a study on the neo-sex chromosome systems of six Neotropical Melanoplinae species for contributing to a better understanding of their origin and behaviour of these systems. Our analyses included detailed descriptions of the structure and behaviour of the sex chromosome configurations in male and female ...
Evans Ben J - - 2010
Sex-specific differences in dispersal, survival, reproductive success, and natural selection differentially affect the effective population size (N(e)) of genomic regions with different modes of inheritance such as sex chromosomes and mitochondrial DNA. In papionin monkeys (macaques, baboons, geladas, mandrills, drills, and mangabeys), for example, these factors are expected to reduce ...
Lockshin Michael D - - 2010
Autoimmune illnesses have sex ratios that range from 10:1 female predominant to 1:3 male predominant. Potential genetic/chromosomal explanations include differences in X and Y chromosome genes, mutations or deletions of sex chromosomes, skewed inactivation of X chromosome genes, and gene imprinting. The latter may reflect epigenetic environmentally induced differences between ...
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