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Martínez Paula P Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO), Melchor Fernández Almagro 3, E-28029, Madrid, - - 2014
TRF2 is a component of shelterin, the protein complex that protects the ends of mammalian chromosomes. TRF2 is essential for telomere capping owing to its roles in suppressing an ATM-dependent DNA damage response (DDR) at chromosome ends and inhibiting end-to-end chromosome fusions. Mice deficient for TRF2 are early embryonic lethal. ...
Grant Audrey V AV Laboratoire de Génétique Humaine des Maladies Infectieuses, Branche Necker, Institut National de la Santé et de la Recherche Médicale, U980, Paris, France, - - 2014
Leprosy is caused by infection with Mycobacterium leprae and is classified clinically into paucibacillary (PB) or multibacillary (MB) subtypes based on the number of skin lesions and the bacillary index detected in skin smears. We previously identified a major PB susceptibility locus on chromosome region 10p13 in Vietnamese families by ...
Thirstrup J P - - 2013
Mapping of QTL affecting fur quality traits (guard hair length, guard hair thickness, density of wool, surface of the fur and quality) and skin length was performed in a three-generation mink population (F2 design). In the parental generation, Nordic Brown mink were crossed reciprocally with American Black short nap mink. ...
Shon Wonwoo - - 2013
MYC, a proto-oncogene located on chromosome 8q24, is involved in the control of cell proliferation and differentiation. Previous studies have documented high-level MYC gene amplification and MYC overexpression by immunohistochemistry (IHC) in post-irradiation angiosarcomas, but not in primary cutaneous angiosarcoma (AS-C) or in other radiation-associated vascular proliferations, such as atypical ...
Pulido J S - - 2013
AimThe goal of this case report is to describe the dermatologic and conjunctival findings in a case of bilateral diffuse uveal melanocytic proliferation (BDUMP), a paraneoplastic syndrome usually associated with gynecologic cancers. There is little information about other dermatologic melanocytic findings in these patients.MethodsHistologic and fluorescent in situ hybridization (FISH) ...
Salem Nabeel J M - - 2013
A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low-set and protruding ears, skin tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy ...
Shon Wonwoo - - 2013
Generalized eruptive histiocytosis, described in 1963 by Winklemann and Muller, is a reactive, self-healing form of non-Langerhans histiocytosis. Rare cases of atypical generalized eruptive histiocytosis have been reported in patients with hematopoietic malignancy, but the biological relationship between the two disorders is not known. We report an 84-year-old man with ...
Vreeburg M - - 2013
In a multidisciplinary outpatient clinic for hereditary skin diseases and/or syndromes involving the skin, 7% (30/409) of patients were found to have an abnormality involving the X chromosome, a mutation in a gene located on the X-chromosome or a clinical diagnosis of an X-linked monogenetic condition. The collaboration of a ...
Raadsma H W - - 2013
The pursuits of white features and white fleeces free of pigmented fibre have been important selection objectives for many sheep breeds. The cause and inheritance of non-white colour patterns in sheep has been studied since the early 19th century. Discovery of genetic causes, especially those which predispose pigmentation in white ...
Vergult Sarah - - 2013
Microphthalmia with linear skin defects syndrome (MLS or MIDAS, OMIM #309801) is a rare X-linked male-lethal disorder characterized by microphthalmia or other ocular anomalies and skin lesions limited to the face and neck. However, inter- and intrafamilial variability is high. Here we report a familial case of MLS. A mother ...
Hur Yun Jung - - 2012
Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal ...
Ventura K - - 2012
Blarinomys breviceps possesses cryptic and burrowing habits with poorly documented genetics and life history traits. Due to its rarity, only a few specimens and DNA sequences have been deposited in collections worldwide. Here, we present the most comprehensive cytogenetic and molecular characterization of this rare genus. Phylogenetic analyses based on ...
Panzera Y - - 2012
In this paper, we determine by fluorescent in situ hybridization the variability in the chromosomal location of 45S rDNA clusters in 38 species belonging to 7 genera of the Triatominae subfamily, using a triatomine-specific 18S rDNA probe. Our results show a striking variability at the inter- and intraspecific level, never ...
Breda Ewa - - 2012
The genus Brachypodium has become the target of extensive cytomolecular studies since one of its representatives, B. distachyon, has been accepted as a model plant for temperate cereals and forage grasses. Recent preliminary studies suggested that intraspecific rDNA polymorphism can occur in at least two members of the genus, B. ...
Tomas P A - - 2012
The karyotype of Elymus scabrifolius (Döll) J.H. Hunz. (2n = 4x = 28) was investigated by DAPI staining and in situ hybridization. All the accessions studied presented a symmetric and uniform karyotype constituted by 9m+2m-sm+3sm. DAPI stain showed 1-7 conspicuous bands in all the chromosomes and polymorphisms between accessions. FISH ...
Perelman P L - - 2012
The order of Carnivora has been very well characterized with over 50 species analyzed by chromosome painting and with painting probe sets made for 9 Carnivora species. Representatives of almost all families have been studied with few exceptions (Otariidae, Odobenidae, Nandiniidae, Prionodontidae). The patterns of chromosome evolution in Carnivora are ...
Cruz-Izquierdo S - - 2012
This study presents the development of an enhanced map in faba bean. The map contains 258 loci, mostly gene-based markers, organized in 16 linkage groups that expand 1,875 cM, with an average inter-marker distance of 7.26 cM. The combination of EST-derived markers with a number of markers physically located or previously ascribed ...
Carvalho N D M - - 2012
Synbranchidae belongs to the Synbranchiformes and occurs in Africa, Asia, Australia, Mexico, and Central and South America. This family comprises four genera: Synbranchus, Ophisternon, Monopterus, and Macrotrema. Only two are known from the neotropical region, Ophisternon and Synbranchus. According to current classification, Synbranchus has three valid species: S. marmoratus (Bloch ...
Yano C F - - 2012
The Neotropical fish Heptapterus mustelinus, collected in the Pindorama stream of the upper Paraná River basin (Brazil), was studied cytogenetically, verifying 54 chromosomes (26m + 18m + 4st + 6a). This diploid number has not been reported among the Heptapteridae that have been studied to date. Unlike most species of ...
Chaves Raquel - - 2012
The order Rodentia and in particular the Muridae are characterised by extremely high rates of chromosome evolution and remarkable chromosome diversity. The Praomys group (Murinae, Muridae and Rodentia) constitutes a diverse and abundant group divided into two complexes, the jacksoni complex and the tullbergi complex which includes the species Praomys ...
Richard F - - 2012
Lagomorpha (rabbits and pikas) and Sciuromorpha (squirrels) are grouped in the Glires superorder. Their chromosome diversification, since their separation from the eutherian mammalian common ancestor, was characterized by a low rate of chromosome rearrangements. Consequently, the structure of some chromosomes was either conserved or only slightly modified, making their comparison ...
Graphodatsky A - - 2012
Genome diversity has long been studied from the comparative cytogenetic perspective. Early workers documented differences between species in diploid chromosome number and fundamental number. Banding methods allowed more detailed descriptions of between-species rearrangements and classes of differentially staining chromosome material. The infusion of molecular methods into cytogenetics provided a third ...
Biltueva L - - 2012
We integrated chromosome painting information on 5 core-insectivora species available in the literature with new Zoo-FISH data for Iberian shrew (Sorex granarius) and Altai mole (Talpa altaica). Our analysis of these 7 species allowed us to determine the chromosomal features of Eulipotyphla genomes and to update the previously proposed ancestral ...
Ferreira J - - 2012
A comparative cytogenetic map was built for Lotusuliginosus (2n = 12), expanding previous analyses that revealed intra- and interspecific chromosomal rearrangements in the model legume L. japonicus, L. filicaulis, and L. burttii. This species is positioned in a sister clade of the previously-mapped species and is proposed as one of ...
Caraballo Diego A - - 2012
Tuco-tucos (small subterranean rodents of the genus Ctenomys) that inhabit sandy soils of the area under the influence of the second largest wetland of South America, in Northeastern Argentina (Corrientes province), are a complex of species and forms whose taxonomic status were not defined, nor are the evolutionary relationships among ...
Giraldo Patricia - - 2012
Brachypodium distachyon (L.) P. Beauv. (2n = 2x = 10) is a small annual grass species where the existence of three different cytotypes (10, 20, and 30 chromosomes) has long been regarded as a case of autopolyploid series with x = 5. However, it has been demonstrated that the cytotypes ...
Nabais C - - 2012
In the Squalius alburnoides fish complex, allotriploid females (3n = 75) reproduce mostly by meiotic hybridogenesis, producing haploid gametes by means of the elimination of the heterospecific chromosome set and recombination between the 2 homospecific genomes. A synaptonemal complexes (SCs) analysis was performed in specimens from a confined southern population ...
Zhang L - - 2012
The cultivated peanut, Arachis hypogaea (AABB, 2n = 40), is an allotetraploid which was probably originated from a hybridization event between 2 ancestors, A. duranensis (A genome) and A. ipaensis (B genome) followed by chromosome doubling. The wild species in the Arachis section are useful genetic resources for genes that ...
Oliveira S G - - 2012
Repetitive DNA sequences constitute a high fraction of eukaryotic genomes and are considered a key component for the chromosome and karyotype evolution. For a better understanding of their evolutionary role in beetles, we examined the chromosomes of 5 species of the genus Coprophanaeus by C-banding, fluorochrome staining CMA(3)/DA/DAPI, and fluorescence ...
Vilaça Sibelle T - - 2012
Surprisingly, a high frequency of interspecific sea turtle hybrids has been previously recorded in a nesting site along a short stretch of the Brazilian coast. Mitochondrial DNA data indicated that as much as 43% of the females identified as Eretmochelys imbricata are hybrids in this area (Bahia State of Brazil). ...
Paesold Susanne - - 2012
We developed a reference karyotype for B. vulgaris which is applicable to all beet cultivars and provides a consistent numbering of chromosomes and genetic linkage groups. Linkage groups of sugar beet were assigned to physical chromosome arms by FISH using a set of 18 genetically anchored BAC markers. Genetic maps of ...
Blanco D R - - 2012
This study presents an adaptation of current methodologies for preparing mitotic chromosomes from fishes, optimized for use in the field. The high-quality preparations obtained using this modified methodology is suitable for subsequent chromosomal analysis. Importantly, this method is particularly useful when specimen collection sites are far from research laboratories or ...
Alevi Kaio Cesar Chaboli - - 2012
Triatoma melanocephala is a rare species of Hemiptera that belongs to the Brasiliensis subcomplex. This subcomplex is composed of cryptic species, and the basic number of chromosomes for triatomines of this subcomplex is 2n = 22; however, T. melanocephala showed a karyotype of 2n = 24 (20A +X1X2X3Y). Thus, this ...
Santos E C X R - - 2012
Most members of the subfamily Mimosoideae have pantropical distributions, variable habits, and a basic chromosome number x = 13. We examined karyotypic evolution of 27 species of this subfamily occurring principally in northeastern Brazil by examining chromosomes stained with Giemsa. All of the species had semi-reticulated interphase nuclei and early ...
Song Chi - - 2012
Whole genome duplication (WGD) events have been proven to occur in the evolutionary history of most angiosperms. Tomato is considered a model species of the Solanaceae family. In this study, we describe the details of the evolutionary process of the tomato genome by detecting collinearity blocks and dating the WGD ...
Fernandes Thiago - - 2012
Short tandem DNA repeats and telomerase compose the telomere structure in the vast majority of eukaryotic organisms. However, such a conserved organisation has not been found in dipterans. While telomeric DNA in Drosophila is composed of specific retrotransposons, complex terminal tandem repeats are present in chromosomes of Anopheles and chironomid ...
Ventura Karen - - 2012
The Akodontini is the second most speciose tribe of sigmodontine rodents, one of the most diverse groups of neotropical mammals. Molecular phylogenetic analyses are discordant regarding the interrelationships of genera, with low support for some clades. However, two clades are concordant, one (clade A) with Akodon sensu strictu (excluding Akodon ...
Stanyon R - - 2012
The catarrhine primates were the first group of species studied with comparative molecular cytogenetics. Many of the fundamental techniques and principles of analysis were initially applied to comparisons in these primates, including interspecific chromosome painting, reciprocal chromosome painting and the extensive use of cloned DNA probes for evolutionary analysis. The ...
Lira-Neto A C - - 2012
Males of Zophobas aff. confusus and Nyctobates gigas (Tenebrionidae) collected in the State of Pernambuco, Brazil, were studied through conventional staining, C-banding, silver nitrate impregnation (AgNO(3)), and the base specific fluorochromes CMA(3) and DAPI. Z. aff. confusus was found to have 2n = 20 (9+Xyp) while N. gigas exhibited 2n ...
Fernández Maria Jimena Gómez - - 2012
Delimiting species is very conflicting in the case of very young taxa that are in the process of diversification, and even more difficult if the species inhabit a heterogeneous environment. In this case, even population delimitation is controversial. The South American genus of subterranean rodents Ctenomys is highly speciose, with ...
Grabowska-Joachimiak A - - 2012
The object of this work was to analyze the karyotype structure of Rumex thyrsiflorus using differential fluorescent methods of chromosome staining (C-banding/DAPI and CMA(3)/DA/DAPI) and molecular sex markers. The results obtained were compared with data on the structure of the sex chromosomes and autosomes in R. acetosa, a model species ...
de Oliveira E H C - - 2012
During the last decades, New World monkey (NWM, Platyrrhini, Anthropoideae) comparative cytogenetics has shed light on many fundamental aspects of genome organisation and evolution in this fascinating, but also highly endangered group of neotropical primates. In this review, we first provide an overview about the evolutionary origin of the inferred ...
Romanenko S A - - 2012
Rodents are, taxonomically, the most species-rich mammalian order. They display a series of special genomic features including the highest karyotypic diversity, frequent occurrence of complex intraspecies chromosome variability, and a variety of unusual chromosomal sex determination mechanisms not encountered in other mammalian taxa. Rodents also have an abundance of cytochemically ...
Szinay Dóra - - 2012
• Chromosomal rearrangements are relatively rare evolutionary events and can be used as markers to study karyotype evolution. This research aims to use such rearrangements to study chromosome evolution in Solanum. • Chromosomal rearrangements between Solanum crops and several related wild species were investigated using tomato and potato bacterial artificial ...
Man In 't Veld Willem Arie - - 2012
The first natural hybrids in the genus Phytophthora were described in 1998, and they were the result of hybridization between P. nicotianae and P. cactorum. They were formally described as Phytophthora Xpelgrandis in 2009. In 2007 a second type of P. cactorum hybrid species was described, generated by hybridization between ...
Svartman M - - 2012
The Magnaorder Xenarthra is one of the four main supraordinal eutherian clades, together with Afrotheria, Euarchontoglires and Laurasiatheria. Xenarthra is an eminently Central and South American group of special interest in phylogenetic studies due to its possible position at the base of the eutherian tree. The use of modern cytogenetic ...
Perucatti A - - 2012
Based on a recently generated comprehensive gene map for Ovis aries chromosome X (OARX) with an approximately even locus distribution, we assigned selected bacterial artificial chromosome (BAC) probes corresponding to these OARX loci to Bubalus bubalis (BBU) and Bos taurus (BTA) by comparative fluorescence in-situ hybridization (FISH) to improve cytogenetically ...
Koga A - - 2012
Chromosomes of the siamang Symphalangus syndactylus (a small ape) carry large-scale heterochromatic structures at their ends. These structures look similar, by chromosome C-banding, to chromosome-end heterochromatin found in chimpanzee, bonobo and gorilla (African great apes), of which a major component is tandem repeats of 32-bp-long, AT-rich units. In the present ...
Volleth M - - 2012
Chiroptera, the second largest order of mammals, comprises more than 1,000 species in 18 highly morphologically diverse families. Chromosome painting with human probes has been applied to 10 bat species from 8 families. Except for the combination 10/12pq/22q, all syntenic segmental associations proposed for the mammalian ancestor have been found ...
Kumar Sanjeev - - 2012
During the present course, population-based meiotic studies were carried out on five species of subfamily Papaveroideae from selected localities of Kashmir and Himachal Pradesh in the Western Himalayas (India). Varied intraspecific chromosome counts were reported for the first time in Argemone mexicana and Meconopsis latifolia, both existing on 2n = 2x = 14. The ...
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