Malcolm A Ferguson-Smith

Publications (61)301.35 Total impact

• Article: Are NORs Always Located on Homeologous Chromosomes? A FISH Investigation with rDNA and Whole Chromosome Probes in Gymnotus Fishes (Gymnotiformes).

  Susana S R Milhomem, Priscilla C Scacchetti, Julio C Pieczarka, Malcolm A Ferguson-Smith, José C Pansonato-Alves, Patricia C M O'Brien, Fausto Foresti, Cleusa Y Nagamachi
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  ABSTRACT: Gymnotus (Gymnotiformes, Gymnotidae) is the most diverse known Neotropical electric knife fish genus. Cytogenetic studies in Gymnotus demonstrate a huge karyotypic diversity for this genus, with diploid numbers ranging from 34 to 54. The NOR are also variable in this genus, with both single and multiple NORs described. A common interpretation is that the single NOR pair is a primitive trait while multiple NORs are derivative. However this hypothesis has never been fully tested. In this report we checked if the NOR-bearing chromosome and the rDNA site are homeologous in different species of the genus Gymnotus: G. carapo (2n = 40, 42, 54), G. mamiraua (2n = 54), G. arapaima (2n = 44), G. sylvius (2n = 40), G. inaequilabiatus (2n = 54) and G. capanema (2n = 34), from the monophyletic group G. carapo (Gymnotidae-Gymnotiformes), as well as G. jonasi (2n = 52), belonging to the G1 group. They were analyzed with Fluorescence in situ hybridization (FISH) using 18S rDNA and whole chromosome probes of the NOR-bearing chromosome 20 (GCA20) of G. carapo (cytotype 2n = 42), obtained by Fluorescence Activated Cell Sorting. All species of the monophyletic G. carapo group show the NOR in the same single pair, confirmed by hybridization with CGA20 whole chromosome probe. In G. jonasi the NORs are multiple, and located on pairs 9, 10 and 11. In G. jonasi the GCA20 chromosome probe paints the distal half of the long arm of pair 7, which is not a NOR-bearing chromosome. Thus these rDNA sequences are not always in the homeologous chromosomes in different species thus giving no support to the hypothesis that single NOR pairs are primitive traits while multiple NORs are derived. The separation of groups of species in the genus Gymnotus proposed by phylogenies with morphologic and molecular data is supported by our cytogenetic data.
  PLoS ONE 01/2013; 8(2):e55608. · 4.09 Impact Factor
• Article: Variable patterns of Y chromosome homology in Akodontini rodents (Sigmodontinae): a phylogenetic signal revealed by chromosome painting.

  Karen Ventura, Yatiyo Yonenaga-Yassuda, Malcolm A Ferguson-Smith
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  ABSTRACT: 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 serrensis), "Akodon" serrensis, Bibimys, Deltamys, Juscelinomys, Necromys, Oxymycterus, Podoxymys, Thalpomys and Thaptomys, and another (clade B) with Blarinomys, Brucepattersonius, Kunsia, Lenoxus and Scapteromys. Here, we present chromosome painting using Akodon paranaensis (APA) Y paint, after suppression of simple repetitive sequences, on ten Akodontini genera. Partial Y chromosome homology, in addition to the homology already reported on the Akodon genus, was detected on the Y chromosomes of "A." serrensis, Thaptomys, Deltamys, Necromys and Thalpomys and on Y and X chromosomes in Oxymycterus. In Blarinomys, Brucepattersonius, Scapteromys and Kunsia, no APA Y signal was observed using different hybridization conditions; APA X paint gave positive signals only on the X chromosome in all genera. The Y chromosome homology was variable in size and positioning among the species studied as follow: (1) whole acrocentric Y chromosome in Akodon and "A." serrensis, (2) Yp and pericentromeric region in submetacentric Y of Necromys and Thaptomys, (3) pericentromeric region in acrocentric Y of Deltamys, (4) distal Yq in the acrocentric Y chromosome of Thalpomys and (5) proximal Yq in the acrocentric Y and Xp in the basal clade A genus Oxymycterus. The results suggest that the homology involves pairing (pseudoautosomal) and additional regions that have undergone rearrangement during divergence. The widespread Y homology represents a phylogenetic signal in Akodontini that provides additional evidence supporting the monophyly of clade A. The findings also raise questions about the evolution of the pseudoautosomal region observed in Oxymycterus. The Y chromosomes of these closely related species seem to have undergone dynamic rearrangements, including restructuring and reduction of homologous segments. Furthermore, the changes observed may indicate progressive attrition of the Y chromosome in more distantly related species.
  Chromosome Research 06/2012; 20(4):427-33. · 3.09 Impact Factor
• Article: Conservation of chromosomes syntenic with avian autosomes in squamate reptiles revealed by comparative chromosome painting.

  Martina Pokorná, Massimo Giovannotti, Lukáš Kratochvíl, Vincenzo Caputo, Ettore Olmo, Malcolm A Ferguson-Smith, Willem Rens
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  ABSTRACT: In contrast to mammals, birds exhibit a slow rate of chromosomal evolution. It is not clear whether high chromosome conservation is an evolutionary novelty of birds or was inherited from an earlier avian ancestor. The evolutionary conservatism of macrochromosomes between birds and turtles supports the latter possibility; however, the rate of chromosomal evolution is largely unknown in other sauropsids. In squamates, we previously reported strong conservatism of the chromosomes syntenic with the avian Z, which could reflect a peculiarity of this part of the genome. The chromosome 1 of iguanians and snakes is largely syntenic with chromosomes 3, 5 and 7 of the avian ancestral karyotype. In this project, we used comparative chromosome painting to determine how widely this synteny is conserved across nine families covering most of the main lineages of Squamata. The results suggest that the association of the avian ancestral chromosomes 3, 5 and 7 can be dated back to at least the early Jurassic and could be an ancestral characteristic for Unidentata (Serpentes, Iguania, Anguimorpha, Laterata and Scinciformata). In Squamata chromosome conservatism therefore also holds for the parts of the genome which are homologous to bird autosomes, and following on from this, a slow rate of chromosomal evolution could be a common characteristic of all sauropsids. The large evolutionary stasis in chromosome organization in birds therefore seems to be inherited from their ancestors, and it is particularly striking in comparison with mammals, probably the only major tetrapod lineage with an increased rate of chromosomal rearrangements as a whole.
  Chromosoma 05/2012; 121(4):409-18. · 3.85 Impact Factor
• Source

  Available from: Svetlana A Romanenko

  Article: Reconstruction of karyotype evolution in core Glires. I. The genome homology revealed by comparative chromosome painting

  Violetta R. Beklemisheva, Svetlana A. Romanenko, Larisa S. Biltueva, Vladimir A. Trifonov, Nadezhda V. Vorobieva, Natalya A. Serdukova, Nadezhda V. Rubtsova, Oleg V. Brandler, Patricia C. M. O’Brien, Fentang Yang, Roscoe Stanyon, Malcolm A. Ferguson-Smith, Alexander S. Graphodatsky
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  ABSTRACT: Glires represent a eutherian clade consisting of rodents and lagomorphs (hares, rabbits, and pikas). Chromosome evolution of Glires is known to have variable rates in different groups: from slowly evolving lagomorphs and squirrels to extremely rapidly evolving muroids. Previous interordinal homology maps between slowly evolving Glires were based on comparison with humans. Here, we used sets of chromosome-specific probes from Tamias sibiricus (Sciuridae), Castor fiber (Castoridae) and humans to study karyotypes of six ground squirrels (genera Marmota and Spermophilus) and one tree squirrel (genus Sciurus), mountain hare (genus Lepus), and rabbit (genus Oryctolagus). These data supplemented with GTG banding comparisons allowed us to build comparative chromosome maps. Our data showed the absence of previously found squirrel associations HSA 1/8 and 2/17 in the Eurasian ground squirrels—sousliks and woodchucks, and disruptions of squirrel HSA 10/13 and HSA 8/4/8/12/22 syntenies in the four Spermophilus species studied here. We found that the karyotypes of Sciuridae and Leporidae are highly conserved and close to the Rodentia ancestral karyotype, while Castoridae chromosomes underwent many more changes. We suggest that Lagomorpha and Sciuridae (in contrast to all other rodent families) should be considered as core Glires lineages, characterized by cytogenetically conserved karyotypes which contain chromosomal elements inherent to karyotype of common Glires ancestor. Our data allowed us to further refine the putative ancestral karyotypes of Rodentia. We also describe here the putative ancestral karyotypes of Glires and lagomorphs. Keywords Lagomorpha – Rodentia – Sciuridae – Castoridae – ancestral karyotypes
  Chromosome Research 04/2012; 19(4):549-565. · 3.09 Impact Factor
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  Available from: Svetlana A Romanenko

  Article: Chromosomal evolution of Arvicolinae (Cricetidae, Rodentia). III. Karyotype relationships of ten Microtus species

  Natalia A. Lemskaya, Svetlana A. Romanenko, Feodor N. Golenishchev, Nadezhda V. Rubtsova, Olga V. Sablina, Natalya A. Serdukova, Patricia C. M. O’Brien, Beiyuan Fu, Nuri Yiğit, Malcolm A. Ferguson-Smith, Fengtang Yang, Alexander S. Graphodatsky
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  ABSTRACT: The genus Microtus consists of 65 extant species, making it one of the rodentia genera with the highest number of species. The extreme karyotype diversification in Microtus has made them an ideal species group for comparative cytogenetics and cytotaxonomy. Conventional comparative cytogenetic studies in Microtus have been based mainly on chromosomal banding patterns; the number of Microtus species examined by molecular cytogenetics—cross-species chromosome painting—is limited. In this study, we used whole chromosome painting probes of the field vole Microtus agrestis to detect regions of homology in the karyotypes of eight Microtus species. For almost all investigated species, species-specific associations of conserved chromosomal segments were revealed. Analysis of data obtained here and previously published data allowed us to propose that the ancestral Microtus species had a 2n = 54 karyotype, including two associations of field vole chromosomal segments (MAG 1/17 and 2/8). Further mapping of the chromosome rearrangements onto a molecular phylogenetic tree allows the reconstruction of a karyotype evolution pathway in the Microtus genus. KeywordsArvicolinae-chromosome painting-comparative cytogenetics-genome evolution-ancestral Microtus karyotype
  Chromosome Research 04/2012; 18(4):459-471. · 3.09 Impact Factor
• Article: Reassessment of genome size in turtle and crocodile based on chromosome measurement by flow karyotyping: close similarity to chicken.

  Fumio Kasai, Patricia C M O'Brien, Malcolm A Ferguson-Smith
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  ABSTRACT: 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 the Nile crocodile (Crocodylus niloticus, CNI), and bird and reptile genomes have been highly conserved during evolution. In this study, size and GC content of all chromosomes are measured from the flow karyotypes of GGA, TSC and CNI. Genome sizes estimated from the total chromosome size demonstrate that TSC and CNI are 1.21 Gb and 1.29 Gb, respectively. This refines previous overestimations and reveals similar genome sizes in chicken, turtle and crocodile. Analysis of chromosome GC content in each of these three species shows a higher GC content in smaller chromosomes than in larger chromosomes. This contrasts with mammals and squamates in which GC content does not correlate with chromosome size. These data suggest that a common ancestor of birds, turtles and crocodiles had a small genome size and a chromosomal size-dependent GC bias, distinct from the squamate lineage.
  Biology letters 04/2012; 8(4):631-5. · 3.76 Impact Factor
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  Available from: Janine E Deakin

  Article: Genomic restructuring in the Tasmanian devil facial tumour: chromosome painting and gene mapping provide clues to evolution of a transmissible tumour.

  Janine E Deakin, Hannah S Bender, Anne-Maree Pearse, Willem Rens, Patricia C M O'Brien, Malcolm A Ferguson-Smith, Yuanyuan Cheng, Katrina Morris, Robyn Taylor, Andrew Stuart, Katherine Belov, Chris T Amemiya, Elizabeth P Murchison, Anthony T Papenfuss, Jennifer A Marshall Graves
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  ABSTRACT: Devil facial tumour disease (DFTD) is a fatal, transmissible malignancy that threatens the world's largest marsupial carnivore, the Tasmanian devil, with extinction. First recognised in 1996, DFTD has had a catastrophic effect on wild devil numbers, and intense research efforts to understand and contain the disease have since demonstrated that the tumour is a clonal cell line transmitted by allograft. We used chromosome painting and gene mapping to deconstruct the DFTD karyotype and determine the chromosome and gene rearrangements involved in carcinogenesis. Chromosome painting on three different DFTD tumour strains determined the origins of marker chromosomes and provided a general overview of the rearrangement in DFTD karyotypes. Mapping of 105 BAC clones by fluorescence in situ hybridisation provided a finer level of resolution of genome rearrangements in DFTD strains. Our findings demonstrate that only limited regions of the genome, mainly chromosomes 1 and X, are rearranged in DFTD. Regions rearranged in DFTD are also highly rearranged between different marsupials. Differences between strains are limited, reflecting the unusually stable nature of DFTD. Finally, our detailed maps of both the devil and tumour karyotypes provide a physical framework for future genomic investigations into DFTD.
  PLoS Genetics 02/2012; 8(2):e1002483. · 8.69 Impact Factor
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  Available from: Vincenzo Caputo

  Article: Chromosomal evolution in Gekkonidae. I. Chromosome painting between Gekko and Hemidactylus species reveals phylogenetic relationships within the group.

  Vladimir A Trifonov, Massimo Giovannotti, Patricia C M O'Brien, Margaret Wallduck, Frances Lovell, Willem Rens, Patricia P Parise-Maltempi, Vincenzo Caputo, Malcolm A Ferguson-Smith
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  ABSTRACT: Geckos are a large group of lizards characterized by a rich variety of species, different modes of sex determination and diverse karyotypes. In spite of many unresolved questions on lizards' phylogeny and taxonomy, the karyotypes of most geckos have been studied by conventional cytogenetic methods only. We used flow-sorted chromosome-specific painting probes of Japanese gecko (Gekko japonicus), Mediterranean house gecko (Hemidactylus turcicus) and flat-tailed house gecko (Hemidactylus platyurus) to reveal homologous regions and to study karyotype evolution in seven gecko species (Gekko gecko, G. japonicus, G. ulikovskii, G. vittatus, Hemidactylus frenatus, H. platyurus and H. turcicus). Generally, the karyotypes of geckos were found to be conserved, but we revealed some characteristic rearrangements including both fissions and fusions in Hemidactylus. The karyotype of H. platyurus contained a heteromorphic pair in all female individuals, where one of the homologues had a terminal DAPI-negative and C-positive heterochromatic block that might indicate a putative sex chromosome. Among two male individuals studied, only one carried such a polymorphism, and the second one had none, suggesting a possible ZZ/ZW sex determination in some populations of this species. We found that all Gekko species have retained the putative ancestral karyotype, whilst the fission of the largest ancestral chromosome occurred in the ancestor of modern Hemidactylus species. Three common fissions occurred in the ancestor of Mediterranean house and flat-tailed house geckos, suggesting their sister group relationships. PCR-assisted mapping on flow-sorted chromosome libraries with conserved DMRT1 gene primers in G. japonicus indicates the localization of DMRT1 gene on chromosome 6.
  Chromosome Research 10/2011; 19(7):843-55. · 3.09 Impact Factor
• Article: Chromosomal evolution in Rattini (Muridae, Rodentia).

  Daleen Badenhorst, Gauthier Dobigny, Filomena Adega, Raquel Chaves, Patricia C M O'Brien, Malcolm A Ferguson-Smith, Paul D Waters, Terence J Robinson
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  ABSTRACT: The Rattini (Muridae, Murinae) includes the biologically important model species Rattus norvegicus (RNO) and represents a group of rodents that are of clinical, agricultural and epidemiological importance. We present a comparative molecular cytogenetic investigation of ten Rattini species representative of the genera Maxomys, Leopoldamys, Niviventer, Berylmys, Bandicota and Rattus using chromosome banding, cross-species painting (Zoo-fluorescent in situ hybridization or FISH) and BAC-FISH mapping. Our results show that these taxa are characterised by slow to moderate rates of chromosome evolution that contrasts with the extensive chromosome restructuring identified in most other murid rodents, particularly the mouse lineage. This extends to genomic features such as NOR location (for example, NORs on RNO 3 are present on the corresponding chromosomes in all species except Bandicota savilei and Niviventer fulvescens, and the NORs on RNO 10 are conserved in all Rattini with the exception of Rattus). The satellite I DNA family detected and characterised herein appears to be taxon (Rattus) specific, and of recent origin (consistent with a feedback model of satellite evolution). BAC-mapping using clones that span regions responsible for the morphological variability exhibited by RNO 1, 12 and 13 (acrocentric/submetacentric) and their orthologues in Rattus species, demonstrated that the differences are most likely due to pericentric inversions as exemplified by data on Rattus tanezumi. Chromosomal characters detected using R. norvegicus and Maxomys surifer whole chromosome painting probes were mapped to a consensus sequence-based phylogenetic tree thus allowing an objective assessment of ancestral states for the reconstruction of the putative Rattini ancestral karyotype. This is thought to have comprised 46 chromosomes that, with the exception of a single pair of metacentric autosomes, were acrocentric in morphology.
  Chromosome Research 08/2011; 19(6):709-27. · 3.09 Impact Factor
• Article: Strong conservation of the bird Z chromosome in reptilian genomes is revealed by comparative painting despite 275 million years divergence

  Martina Pokorná, Massimo Giovannotti, Lukáš Kratochvíl, Fumio Kasai, Vladimir A. Trifonov, Patricia C. M. O’Brien, Vincenzo Caputo, Ettore Olmo, Malcolm A. Ferguson-Smith, Willem Rens
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  ABSTRACT: The divergence of lineages leading to extant squamate reptiles (lizards, snakes, and amphisbaenians) and birds occurred about 275 million years ago. Birds, unlike squamates, have karyotypes that are typified by the presence of a number of very small chromosomes. Hence, a number of chromosome rearrangements might be expected between bird and squamate genomes. We used chromosome-specific DNA from flow-sorted chicken (Gallus gallus) Z sex chromosomes as a probe in cross-species hybridization to metaphase spreads of 28 species from 17 families representing most main squamate lineages and single species of crocodiles and turtles. In all but one case, the Z chromosome was conserved intact despite very ancient divergence of sauropsid lineages. Furthermore, the probe painted an autosomal region in seven species from our sample with characterized sex chromosomes, and this provides evidence against an ancestral avian-like system of sex determination in Squamata. The avian Z chromosome synteny is, therefore, conserved albeit it is not a sex chromosome in these squamate species.
  Chromosoma 07/2011; 120(5):455-468. · 3.85 Impact Factor
• Article: Putting medical genetics into practice.

  Malcolm A Ferguson-Smith
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  ABSTRACT: This article describes a fragment of history on the growing impact of genetics on the practice of medicine over 50 years, as experienced by a medical geneticist who helped to provide services to patients at risk of genetic disorders. It is a personal account influenced by a fascination with chromosomes that has drawn him into many studies, including sex determination, gene discovery, fetal diagnosis, phylogenomics, and karyotype evolution.
  Annual review of genomics and human genetics 05/2011; 12:1-23. · 11.57 Impact Factor
• Article: Chromosome painting in Tragulidae facilitates the reconstruction of Ruminantia ancestral karyotype.

  Anastasia I Kulemzina, Fengtang Yang, Vladimir A Trifonov, Oliver A Ryder, Malcolm A Ferguson-Smith, Alexander S Graphodatsky
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  ABSTRACT: Although Tragulidae, as the basal family in Ruminantia phylogenetic tree, is the key taxon for understanding the early chromosome evolution of extant ruminants, comparative molecular cytogenetic data on the tragulids are scarce. Here, we present the first genome-wide comparative map of the Java mouse deer (Tragulus javanicus, Tragulidae) revealed by chromosome painting with human and dromedary probes. Together with the published comparative maps of major representative cetartiodactyl species established with the same set of probes, our results allowed us to reconstruct a 2n = 48 Ruminantia ancestral karyotype, which is similar to the cetartiodactyl ancestral karyotype. The karyotype evolution of T. javanicus has involved multiple rearrangements, most of which appear to be apomorphic and have not found in karyotype evolution of pecoran species (i.e., Ruminantia excluding Tragulidae). The rate of chromosome evolution of the mouse deer was rather low-0.4 R/Ma, while the estimated tempo of chromosome changes on the lineages leading from Cetartiodactyla ancestor to Ruminantia and from Ruminantia to Pecora were roughly the same (about 1.2 R/Ma).
  Chromosome Research 03/2011; 19(4):531-9. · 3.09 Impact Factor
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  Available from: Edivaldo Herculano Corrêa de Oliveira

  Article: Maintenance of syntenic groups between Cathartidae and Gallus gallus indicates symplesiomorphic karyotypes in new world vultures

  Marcella M. Tagliarini, Patricia C.M.O'Brien, Malcolm A. Ferguson-Smith, Edivaldo H.C. de Oliveira
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  ABSTRACT: Similarities between New World and Old World vultures have been interpreted to reflect a close relationship and to suggest the inclusion of both in Accipitridae (Falconiformes). However, deeper analyses indicated that the placement of the New World vultures (cathartids) in this Order is uncertain. Chromosome analysis has shown that cathartids retained a karyotype similar to the putative avian ancestor. In order to verify the occurrence of intrachromosomal rearrangements in cathartids, we hybridized whole chromosome probes of two species (Gallus gallus and Leucopternis albicollis) onto metaphases of Cathartes aura. The results showed that not only were the syntenic groups conserved between Gallus and C. aura, but probably also the general gene order, suggesting that New World vultures share chromosomal symplesiomorphies with most bird lineages.
  Genetics and Molecular Biology. 01/2011; 34(1):80-83.
• Source

  Available from: Edivaldo Herculano Corrêa de Oliveira

  Article: Maintenance of syntenic groups between Cathartidae and Gallus gallus indicates symplesiomorphic karyotypes in new world vultures.

  Marcella M Tagliarini, Patricia C M O'Brien, Malcolm A Ferguson-Smith, Edivaldo H C de Oliveira
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  ABSTRACT: Similarities between New World and Old World vultures have been interpreted to reflect a close relationship and to suggest the inclusion of both in Accipitridae (Falconiformes). However, deeper analyses indicated that the placement of the New World vultures (cathartids) in this Order is uncertain. Chromosome analysis has shown that cathartids retained a karyotype similar to the putative avian ancestor. In order to verify the occurrence of intrachromosomal rearrangements in cathartids, we hybridized whole chromosome probes of two species (Gallus gallus and Leucopternis albicollis) onto metaphases of Cathartes aura. The results showed that not only were the syntenic groups conserved between Gallus and C. aura, but probably also the general gene order, suggesting that New World vultures share chromosomal symplesiomorphies with most bird lineages.
  Genetics and Molecular Biology 01/2011; 34(1):80-3. · 0.63 Impact Factor
• Article: Differentiation of sex chromosomes and karyotypic evolution in the eye-lid geckos (Squamata: Gekkota: Eublepharidae), a group with different modes of sex determination.

  Martina Pokorná, Marie Rábová, Petr Ráb, Malcolm A Ferguson-Smith, Willem Rens, Lukáš Kratochvíl
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  ABSTRACT: 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 brevis, Coleonyx elegans, Coleonyx variegatus, Eublepharis angramainyu, Eublepharis macularius, Goniurosaurus araneus, Goniurosaurus lichtenfelderi, Goniurosaurus luii, Goniurosaurus splendens, Hemitheconyx caudicinctus, and Holodactylus africanus) covering all genera of the family, and search for the presence of heteromorphic sex chromosomes. Phylogenetic mapping of chromosomal changes showed a long evolutionary stasis of karyotypes with all acrocentric chromosomes followed by numerous chromosomal rearrangements in the ancestors of two lineages. We have found heteromorphic sex chromosomes in only one species, which suggests that sex chromosomes in most GSD species of the eyelid geckos are not morphologically differentiated. The sexual difference in karyotype was detected only in C. elegans which has a multiple sex chromosome system (X(1)X(2)Y). The metacentric Y chromosome evolved most likely via centric fusion of two acrocentric chromosomes involving loss of interstitial telomeric sequences. We conclude that the eyelid geckos exhibit diversity in sex determination ranging from the absence of any sexual differences to heteromorphic sex chromosomes, which makes them an interesting system for exploring the evolutionary origin of sexually dimorphic genomes.
  Chromosome Research 11/2010; 18(7):809-20. · 3.09 Impact Factor
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  Available from: Willem Rens

  Article: Epigenetic modifications on X chromosomes in marsupial and monotreme mammals and implications for evolution of dosage compensation.

  Willem Rens, Margaret S Wallduck, Frances L Lovell, Malcolm A Ferguson-Smith, Anne C Ferguson-Smith
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  ABSTRACT: X chromosome dosage compensation in female eutherian mammals is regulated by the noncoding Xist RNA and is associated with the differential acquisition of active and repressive histone modifications, resulting in repression of most genes on one of the two X chromosome homologs. Marsupial mammals exhibit dosage compensation; however, they lack Xist, and the mechanisms conferring epigenetic control of X chromosome dosage compensation remain elusive. Oviparous mammals, the monotremes, have multiple X chromosomes, and it is not clear whether they undergo dosage compensation and whether there is epigenetic dimorphism between homologous pairs in female monotremes. Here, using antibodies against DNA methylation, eight different histone modifications, and HP1, we conduct immunofluorescence on somatic cells of the female Australian marsupial possum Trichosurus vulpecula, the female platypus Ornithorhynchus anatinus, and control mouse cells. The two marsupial X's were different for all epigenetic features tested. In particular, unlike in the mouse, both repressive modifications, H3K9me3 and H4K20Me3, are enriched on one of the X chromosomes, and this is associated with the presence of HP1 and hypomethylation of DNA. Using sequential labeling, we determine that this DNA hypomethylated X correlates with histone marks of inactivity. These results suggest that female marsupials use a repressive histone-mediated inactivation mechanism and that this may represent an ancestral dosage compensation process that differs from eutherians that require Xist transcription and DNA methylation. In comparison to the marsupial, the monotreme exhibited no epigenetic differences between homologous X chromosomes, suggesting the absence of a dosage compensation process comparable to that in therians.
  Proceedings of the National Academy of Sciences 10/2010; 107(41):17657-62. · 9.68 Impact Factor
• Article: Meiotic analysis of XX/XY and neo-XX/XY sex chromosomes in Phyllostomidae by cross-species chromosome painting revealing a common chromosome 15-XY rearrangement in Stenodermatinae.

  Renata Coelho Rodrigues Noronha, Cleusa Yoshiko Nagamachi, Patricia C M O'Brien, Malcolm A Ferguson-Smith, Julio Cesar Pieczarka
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  ABSTRACT: We analyzed the meiotic behavior of the sex chromosomes of the bats Glossophaga soricina (XX/XY), Artibeus cinereus and Uroderma magnirostrum (neo-XX/XY) using multicolor FISH. The X chromosome and pair 15 autosome probes are from Phyllostomus hastatus and the Y from Carollia brevicauda. On both species with the neo-XX/XY system, the autosome translocated to the sex chromosomes is the pair 15 in P. hastatus, a synapomorphy. The analysis of meiosis confirms that the X and Y have a pseudo-autosomal region, with a typical end-to-end pairing. The autosomal regions of the neo-XX/XY shows different levels of condensation when compared to the original XX/XY. The compound system presented a characteristic shape, as if it was a closed ring with a tail. The ring represents the non-paired segments of the X and Y and the small pairing region of the original sex chromosomes. The tail corresponds to the pairing of the 15 P. hastatus autosomal bivalent, which are translocated to the sex chromosomes. Probably the non-pairing is responsible for the meiotic silencing of these segments.
  Chromosome Research 09/2010; 18(6):667-76. · 3.09 Impact Factor
• Article: Prenatal Diagnosis: past, present, and future.

  Malcolm A Ferguson-Smith, Diana W Bianchi
  Prenatal Diagnosis 07/2010; 30(7):601-4. · 2.11 Impact Factor
• Article: Reciprocal chromosome painting between white hawk (Leucopternis albicollis) and chicken reveals extensive fusions and fissions during karyotype evolution of accipitridae (Aves, Falconiformes).

  Edivaldo H Correa de Oliveira, Marcella M Tagliarini, Jorge Dores Rissino, Julio C Pieczarka, Cleusa Y Nagamachi, Patricia C M O'Brien, Malcolm A Ferguson-Smith
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  ABSTRACT: Evolutionary cytogenetics can take confidence from methodological and analytical advances that promise to speed up data acquisition and analysis. Drastic chromosomal reshuffling has been documented in birds of prey by FISH. However, the available probes, derived from chicken, have the limitation of not being capable of determining if breakpoints are similar in different species: possible synapomorphies are based on the number of segments hybridized by each of chicken chromosome probes. Hence, we employed FACS to construct chromosome paint sets of the white hawk (Leucopternis albicollis), a Neotropical species of Accipitridae with 2n = 66. FISH experiments enabled us to assign subchromosomal homologies between chicken and white hawk. In agreement with previous reports, we found the occurrence of fusions involving segments homologous to chicken microchromosomes and macrochromosomes. The use of these probes in other birds of prey can identify important chromosomal synapomorphies and clarify the phylogenetic position of different groups of Accipitridae.
  Chromosome Research 03/2010; 18(3):349-55. · 3.09 Impact Factor
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  Available from: PubMed Central

  Article: Multiple rearrangements in cryptic species of electric knifefish, Gymnotus carapo (Gymnotidae, Gymnotiformes) revealed by chromosome painting.

  Cleusa Y Nagamachi, Julio C Pieczarka, Susana S R Milhomem, Patricia C M O'Brien, Augusto C P de Souza, Malcolm A Ferguson-Smith
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  ABSTRACT: Gymnotus (Gymnotidae, Gymnotiformes) is the Neotropical electric fish genus with the largest geographic distribution and the largest number of species, 33 of which have been validated. The diploid number varies from 2n = 39-40 to 2n = 54. Recently we studied the karyotype of morphologically indistinguishable samples from five populations of G. carapo sensu stricto from the Eastern Amazon of Brazil. We found two cytotypes, 2n = 42 (30 M/SM + 12 ST/A) and 2n = 40 (34 M/SM + 6 ST/A) and we concluded that the differences between the two cryptic species are due to pericentric inversions and one tandem fusion. In this study we use for the first time, whole chromosome probes prepared by FACS of the Gymnotus carapo sensu strictu species, cytotype with 2n = 42. Using two color hybridizations we were able to distinguish pairs 1, 2, 3, 7, 9, 14, 16, 18, 19, 20 and 21. It was not possible to separate by FACS and distinguish each of the following chromosome pairs even with dual color FISH: {4,8}; {10,11}; {5,6,17}; {12,13,15}. The FISH probes were then used in chromosome painting experiments on metaphases of the 2n = 40 cytotype. While some chromosomes show conserved synteny, others are rearranged in different chromosomes. Eight syntenic associations were found. These results show that the karyotype differences between these cryptic species are greater than assumed by classical cytogenetics. These data reinforce the previous supposition that these two cytotypes are different species, despite the absence of morphological differences. Additionally, the homology of repetitive DNA between the two provides evidence of recent speciation.
  BMC Genetics 01/2010; 11:28. · 2.47 Impact Factor