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1.
Chromosome Res ; 27(4): 321-332, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31418128

RESUMO

African great apes have large constitutive heterochromatin (C-band) blocks in subtelomeric regions of the majority of their chromosomes, but humans lack these. Additionally, the chimpanzee meiotic cell division process demonstrates unique partial terminal associations in the first meiotic prophase (pachytene). These are likely formed as a result of interaction among subtelomeric C-band blocks. We thus conducted an extensive study to define the features in the subtelomeric heterochromatic regions of chimpanzee chromosomes undergoing mitotic metaphase and meiotic cell division. Molecular cytogenetic analyses with probes of both subterminal satellite DNA (a main component of C-band) and rDNA demonstrated principles of interaction among DNA arrays. The results suggest that homologous and ectopic recombination through persistent subtelomeric associations (post-bouquet association observed in 32% of spermatocytes in the pachytene stage) appears to create variability in heterochromatin patterns and simultaneously restrain subtelomeric genome polymorphisms. That is, the meeting of non-homologous chromosome termini sets the stage for ectopic pairing which, in turn, is the mechanism for generating variability and genomic dispersion of subtelomeric C-band blocks through a system of concerted evolution. Comparison between the present study and previous reports indicated that the chromosomal distribution rate of sutelomeric regions seems to have antagonistic correlation with arm numbers holding subterminal satellite blocks in humans, chimpanzees, and gorillas. That is, the increase of subterminal satellite blocks probably reduces genomic diversity in the subtelomeric regions. The acquisition vs. loss of the subtelomeric C-band blocks is postulated as the underlying engine of this chromosomal differentiation yielded by meiotic chromosomal interaction.


Assuntos
Cromossomos de Mamíferos , DNA Ribossômico , DNA Satélite , Variação Estrutural do Genoma , Pan troglodytes/genética , Recombinação Genética , Animais , Estruturas Cromossômicas , Análise Citogenética , Evolução Molecular , Feminino , Variação Genética , Heterocromatina , Masculino
2.
Cytogenet Genome Res ; 158(2): 88-97, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31220833

RESUMO

Human chromosome 7 has been the focus of many behavioral, genetic, and medical studies because it carries genes related to cancer and neurodevelopment. We examined the evolution of the chromosome 7 homologs, and the 7q31 region in particular, using chromosome painting analyses and 3 paint probes derived from (i) the whole of chimpanzee chromosome VII (wcVII), (ii) human 7q31 (h7q31), and (iii) the chimpanzee homolog VIIq31 (cVIIq31). The wcVII probe was used instead of the whole human chromosome 7 because the chimpanzee contains additional C-bands and revealed large areas of synteny conservation as well as fragmentation across 20 primate species. Analyses focusing specifically on the 7q31 homolog and vicinity revealed considerable conservation across lineages with 2 exceptions. First, the probes verified an insertion of repetitive sequence at VIIq22 in chimpanzees and bonobos and also detected the sequence in most subtelomeres of the African apes. Second, a paracentric inversion with a breakpoint in the cVIIq31 block was found in the common marmoset, confirming earlier studies. Subsequent in silico comparative genome analysis of 17 primate species revealed that VIIq31.1 is more significantly conserved at the sequence level than other regions of chromosome VII, which indicates that its components are likely responsible for critical shared traits across the order, including conditions necessary for proper human development and wellbeing.


Assuntos
Coloração Cromossômica/métodos , Cromossomos Humanos Par 7/genética , Cromossomos de Mamíferos/genética , Animais , Simulação por Computador , Sequência Conservada , Evolução Molecular , Humanos , Hibridização in Situ Fluorescente , Pan paniscus/genética , Pan troglodytes/genética , Primatas/genética , Homologia de Sequência do Ácido Nucleico
3.
Genome Biol Evol ; 9(7): 1963-1970, 2017 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-28810713

RESUMO

Owl monkeys (genus Aotus) are the only taxon in simian primates that consists of nocturnal or otherwise cathemeral species. Their night vision is superior to that of other monkeys, apes, and humans but not as good as that of typical nocturnal mammals. This incomplete night vision has been used to conclude that these monkeys only secondarily adapted to a nocturnal lifestyle, or to their cathemeral lifestyle that involves high night-time activity. It is known that the rod cells of many nocturnal mammals possess a unique nuclear architecture in which heterochromatin is centrally located. This "inverted nuclear architecture", in contrast with "conventional nuclear architecture", provides elevated night vision by passing light efficiently to the outer segments of photoreceptors. Owl monkey rod cells exhibit an intermediate chromatin distribution, which may provide them with less efficient night vision than other nocturnal mammals. Recently, we identified three megasatellite DNAs in the genome of Azara's owl monkey (Aotus azarae). In the present study, we show that one of the three megasatellite DNAs, OwlRep, serves as the primary component of the heterochromatin block located in the central space of the rod nucleus in A. azarae. This satellite DNA is likely to have emerged in the Aotus lineage after its divergence from those of other platyrrhini taxa and underwent a rapid expansion in the genome. Our results indicate that the heterochromatin core in the A. azarae rod nucleus was newly formed in A. azarae or its recent ancestor, and supports the hypothesis that A. azarae, and with all probability other Aotus species, secondarily acquired night vision.


Assuntos
Aotidae/genética , Aotidae/fisiologia , Evolução Biológica , DNA Satélite , Animais , Evolução Molecular , Heterocromatina , Masculino , Visão Noturna , Retina/metabolismo , Células Fotorreceptoras Retinianas Bastonetes/metabolismo , Análise de Sequência de DNA/métodos
4.
Genome Biol Evol ; 9(4): 945-955, 2017 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-28369492

RESUMO

Using molecular chromosomal analyses, we discovered night monkey hybrids produced in captivity from matings between a female Aotus azarae boliviensis (2n = 50) and a male Aotus lemurinus griseimembra (2n = 53). The parents produced seven offspring in total, including one male and six females-a pattern consistent with Haldane's rule. Chromosomal studies were conducted on four of the hybrid offspring. Two of them showed relatively "simple" mixture karyotypes, including different chromosome numbers (2n = 51, 52), which were formed because of a heteromorphic autosome pair in the father (n = 26, 27). The other two hybrid monkeys exhibited de novo genomic and karyotypic alterations. Detailed analysis of the alterations revealed that one individual carried a mixture karyotype of the two parental species and an X chromosome trisomy (53,XXX). The second individual displayed trisomy of chromosome 18 (52,XX,+18) and a reciprocal translocation between autosomes 21 and 23 (52,XX,+18,t(21;23)). Interestingly, the second monkey exhibited mosaicism among blood cells (mos52,XX,+18[87]/52,XX,+18,t(21;23)[85]), but only a single karyotype (52,XX,+18) in skin fibroblast cells. The X- and 18-trisomies were derived from a doubling of the mother's chromosomes in early embryonic cell division, and the reciprocal translocation likely developed in the bone marrow of the offspring, considering that it was observed only in blood cells. Such occurrence of trisomies in hybrid individuals is a unique finding in placental mammals.


Assuntos
Aotidae/genética , Primatas/genética , Cromossomo X/genética , Animais , Bandeamento Cromossômico , Cromossomos Humanos X/genética , Feminino , Fibroblastos , Humanos , Hibridização Genética , Cariotipagem , Masculino , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Trissomia/genética
5.
Cytogenet Genome Res ; 149(4): 267-273, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27648559

RESUMO

Slow lorises are a cryptic species complex, and thus genetic markers are needed to identify distinct evolutionary lineages or species. We examined the nucleolus organizer regions (NORs) of Bengal slow lorises (Nycticebus bengalensis) using FISH with 18S rDNA (rDNA-FISH) and silver nitrate staining (Ag-NOR stain). Ten individuals of the putatively single species N. bengalensis showed higher variability in localization than 3 other congeners, though their overall karyotypes were similar. The rDNA-FISH analysis detected a total of 18 loci, in contrast to previous studies of other slow loris species that revealed far fewer (6-10) loci. Eight of the 18 loci detected in the present analysis were found to be semi-stable localizations at 4 different chromosomes, while 10 were found to be unstable localizations at 5 other chromosomes. The semi-stable locations showed occasional presence/absence of variations for rDNA-FISH, and unstable locations were polymorphic among individuals, contributing to the higher variability of NORs in this taxon. We hypothesize that the larger numbers of rDNA loci found in N. bengalensis were introduced by genomic dispersion through ectopic recombination in association with terminal regions including rDNA. Such differences are potentially very powerful chromosomal markers to be used in species identification and conservation.


Assuntos
Lorisidae/genética , Região Organizadora do Nucléolo/genética , Animais , Cromossomos/genética , DNA Ribossômico/genética , Hibridização in Situ Fluorescente , Cariótipo , Masculino , RNA Ribossômico 18S/genética , Recombinação Genética/genética , Coloração pela Prata
6.
Sci Rep ; 5: 10315, 2015 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-25974220

RESUMO

Centromeres usually contain large amounts of tandem repeat DNA. Alpha satellite DNA (AS) is the most abundant tandem repeat DNA found in the centromeres of simian primates. The AS of humans contains sequences organized into higher-order repeat (HOR) structures, which are tandem arrays of larger repeat units consisting of multiple basic repeat units. HOR-carrying AS also occurs in other hominoids, but results reported to date for phylogenetically more remote taxa have been negative. Here we show direct evidence for clear HOR structures in AS of the owl monkey and common marmoset. These monkeys are New World monkey species that are located phylogenetically outside of hominoids. It is currently postulated that the presence of HOR structures in AS is unique to hominoids. Our results suggest that this view must be modified. A plausible explanation is that generation of HOR structures is a general event that occurs occasionally or frequently in primate centromeres, and that, in humans, HOR-carrying AS became predominant in the central region of the centromere. It is often difficult to assemble sequence reads of tandem repeat DNAs into accurate contig sequences; our careful sequencing strategy allowed us to overcome this problem.


Assuntos
Centrômero/genética , DNA Satélite/genética , Animais , Aotidae , Sequência de Bases , Callithrix , Mapeamento de Sequências Contíguas , DNA Satélite/isolamento & purificação , Biblioteca Genômica , Humanos , Masculino , Análise de Sequência de DNA
7.
PLoS One ; 9(10): e109151, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25290445

RESUMO

Recently, we discovered that alpha satellite DNA has unique and genus-specific localizations on the chromosomes of small apes. This study describes the details of alpha satellite localization in the genera Nomascus and Hylobates and explores their usefulness in distinguishing parental genome sets in hybrids between these genera. Fluorescence in situ hybridization was used to establish diagnostic criteria of alpha satellite DNA markers in discriminating small ape genomes. In particular we established the genus specificity of alpha satellite distribution in three species of light-cheeked gibbons (Nomascus leucogenys, N. siki, and N. gabriellae) in comparison to that of Hylobates lar. Then we determined the localization of alpha satellite DNA in a hybrid individual which resulted from a cross between these two genera. In Nomascus the alpha satellite DNA blocks were located at the centromere, telomere, and four interstitial regions. In Hylobates detectable amounts of alpha satellite DNA were seen only at centromeric regions. The differences in alpha satellite DNA locations between Nomascus and Hylobates allowed us to easily distinguish the parental chromosomal sets in the genome of intergeneric hybrid individuals found in Thai and Japanese zoos. Our study illustrates how molecular cytogenetic markers can serve as diagnostic tools to identify the origin of individuals. These molecular tools can aid zoos, captive breeding programs and conservation efforts in managing small apes species. Discovering more information on alpha satellite distribution is also an opportunity to examine phylogenetic and evolutionary questions that are still controversial in small apes.


Assuntos
Cromossomos de Mamíferos , DNA Satélite , Hibridização Genética , Hylobates/genética , Animais , Mapeamento Cromossômico , Coloração Cromossômica , Feminino , Humanos , Hylobates/classificação , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Filogenia
8.
DNA Res ; 21(4): 407-15, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24585002

RESUMO

Alpha-satellite DNA (AS) is a main DNA component of primate centromeres, consisting of tandemly repeated units of ~170 bp. The AS of humans contains sequences organized into higher-order repeat (HOR) structures, in which a block of multiple repeat units forms a larger repeat unit and the larger units are repeated tandemly. The presence of HOR in AS is widely thought to be unique to hominids (family Hominidae; humans and great apes). Recently, we have identified an HOR-containing AS in the siamang, which is a small ape species belonging to the genus Symphalangus in the family Hylobatidae. This result supports the view that HOR in AS is an attribute of hominoids (superfamily Hominoidea) rather than hominids. A single example is, however, not sufficient for discussion of the evolutionary origin of HOR-containing AS. In the present study, we developed an efficient method for detecting signs of large-scale HOR and demonstrated HOR of AS in all the three other genera. Thus, AS organized into HOR occurs widely in hominoids. Our results indicate that (i) HOR-containing AS was present in the last common ancestor of hominoids or (ii) HOR-containing AS emerged independently in most or all basal branches of hominoids. We have also confirmed HOR occurrence in centromeric AS in the Hylobatidae family, which remained unclear in our previous study because of the existence of AS in subtelomeric regions, in addition to centromeres, of siamang chromosomes.


Assuntos
Centrômero/genética , DNA Satélite/genética , Evolução Molecular , Hylobatidae/genética , Animais , Mapeamento Cromossômico , Humanos , Filogenia , Análise de Sequência de DNA , Sequências de Repetição em Tandem
9.
Primates ; 54(4): 335-40, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23958946

RESUMO

Hoolock gibbons (genus Hoolock) are a group of very endangered primate species that belong to the small ape family (family Hylobatidae). The entire population that is distributed in the northeast and southeast of Bangladesh is estimated to include only around 350 individuals. A conservation program is thus necessary as soon as possible. Genetic markers are significant tools for planning such programs. In this study, we examined chromosomal characteristics of two western hoolock gibbons that were captured in a Bangladesh forest. During chromosome analysis, we encountered two chromosome variations that were observed for the first time in the wild-born western hoolock gibbons (Hoolock hoolock). The first one was a nonhomologous centromere position in chromosome 8 that was observed in the two examined individuals. The alteration was identical in the two individuals, which were examined by G-band and DAPI-band analyses. Chromosome paint analyses revealed that the difference in the centromere position was due to a single small pericentric inversion. The second variation was a heterozygous elongation in chromosome 9. Analysis by sequential techniques of fluorescence in situ hybridization with 18S rDNA and silver nitrate staining revealed a single and an inverted tandem duplication, respectively, of the nucleolus organizer region in two individuals. These chromosome variations provide useful information for the next steps to consider the evolution and conservation of the hoolock gibbon.


Assuntos
Cromossomos de Mamíferos/genética , Variação Genética , Hylobates/genética , Animais , Bangladesh , Feminino , Cariótipo , Região Organizadora do Nucléolo/genética
10.
J Hum Genet ; 58(11): 752-4, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23945983

RESUMO

Alpha satellite DNA (AS), a major DNA component of primate centromeres, is composed of a tandem array of repeat units of approximately 170 bp. The AS of hominids (family Hominidae; humans and great apes) includes sequences organized into higher-order repeat (HOR) structures, with a periodic appearance of multiple copies of the basic repeat units. Here, we identified an HOR in AS of the siamang, a small ape phylogenetically distinct from hominids but included in hominoids (superfamily Hominoidea). We sequenced long stretches of genomic DNA, and found a repetition of blocks consisting of six and four basic repeat units. Thus, AS organization into HOR is an attribute of hominoids, rather than, as currently postulated, hominids. In addition to centromeres, siamangs carry AS in terminal heterochromatin blocks, and it cannot be determined at present whether these HOR-containing AS sequences originate from the centromere or from the terminal heterochromatin. Even if the latter is the case, these sequences might affect the composition of centromeric AS by being transferred to the centromere.


Assuntos
DNA Satélite/química , Hominidae/genética , Hylobates/genética , Animais , Humanos , Sequências Repetitivas de Ácido Nucleico , Especificidade da Espécie
11.
DNA Res ; 20(5): 461-70, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23761219

RESUMO

Centromeres and telomeres of higher eukaryotes generally contain repetitive sequences, which often form pericentric or subtelomeric heterochromatin blocks. C-banding analysis of chromosomes of Azara's owl monkey, a primate species, showed that the short arms of acrocentric chromosomes consist mostly or solely of constitutive heterochromatin. The purpose of the present study was to determine which category, pericentric, or subtelomeric is most appropriate for this heterochromatin, and to infer its formation processes. We cloned and sequenced its DNA component, finding it to be a tandem repeat sequence comprising 187-bp repeat units, which we named OwlRep. Subsequent hybridization analyses revealed that OwlRep resides in the pericentric regions of a small number of metacentric chromosomes, in addition to the short arms of acrocentric chromosomes. Further, in the pericentric regions of the acrocentric chromosomes, OwlRep was observed on the short-arm side only. This distribution pattern of OwlRep among chromosomes can be simply and sufficiently explained by assuming (i) OwlRep was transferred from chromosome to chromosome by the interaction of pericentric heterochromatin, and (ii) it was amplified there as subtelomeric heterochromatin. OwlRep carries several direct and inverted repeats within its repeat units. This complex structure may lead to a higher frequency of chromosome scission and may thus be a factor in the unique distribution pattern among chromosomes. Neither OwlRep nor similar sequences were found in the genomes of the other New World monkey species we examined, suggesting that OwlRep underwent rapid amplification after the divergence of the owl monkey lineage from lineages of the other species.


Assuntos
Mapeamento Cromossômico , Heterocromatina/fisiologia , Animais , Aotidae , Cariotipagem
12.
DNA Res ; 20(3): 235-40, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23477842

RESUMO

Alpha satellite DNA is a repetitive sequence known to be a major DNA component of centromeres in primates (order Primates). New World monkeys form one major taxon (parvorder Platyrrhini) of primates, and their alpha satellite DNA is known to comprise repeat units of around 340 bp. In one species (Azara's owl monkey Aotus azarae) of this taxon, we identified two types of alpha satellite DNA consisting of 185- and 344-bp repeat units that we designated as OwlAlp1 and OwlAlp2, respectively. OwlAlp2 exhibits similarity throughout its entire sequence to the alpha satellite DNA of other New World monkeys. The chromosomal locations of the two types of sequence are markedly distinct: OwlAlp1 was observed at the centromeric constrictions, whereas OwlAlp2 was found in the pericentric regions. From these results, we inferred that OwlAlp1 was derived from OwlAlp2 and rapidly replaced OwlAlp2 as the principal alpha satellite DNA on a short time scale at the speciation level. A less likely alternative explanation is also discussed.


Assuntos
Aotidae/genética , Cromossomos/genética , DNA Satélite , Animais , Centrômero/genética , Especiação Genética , Sequências de Repetição em Tandem
13.
Genome ; 55(11): 809-12, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23199575

RESUMO

The siamang (Symphalangus syndactylus), a species of the family Hylobatidae (gibbons), carries large blocks of constitutive heterochromatin in the telomere region of chromosomes. We recently found that alpha satellite DNA constitutes these heterochromatin blocks as a main component. Alpha satellite DNA, tandem repeat sequences of 171-bp repeat units, is a major component of centromeres in primates. In addition to the siamang, the white-cheeked gibbon (Nomascus leucogenys) was previously found to carry the alpha satellite DNA in the telomere region, although not as large a scale as the siamang. Gibbons comprise four genera: Hoolock, Hylobates, Nomascus, and Symphalangus. Here, we report that the amplification of alpha satellite DNA in the telomere region is probably confined to two genera: Nomascus and Symphalangus. We examined one species of Hoolock and four species of Hylobates and obtained evidence against such an amplification event in these species. The phylogenetic relationship of the four gibbon genera remains unclear. One simple explanation for the current distribution of the telomere region alpha satellite DNA would be that Nomascus and Symphalangus are relatively closely related and the amplification occurred in their common ancestor.


Assuntos
Cromossomos/genética , DNA Satélite/genética , Hylobates/genética , Hibridização in Situ Fluorescente/métodos , Animais , Heterocromatina/genética , Filogenia , Especificidade da Espécie , Telômero/genética
14.
Genes Genet Syst ; 87(3): 181-90, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22976393

RESUMO

The superfamily Hominoidea (hominoids) comprises two families: Hominidae (hominids) and Hylobatidae (gibbons, also called small apes). The SVA transposon is a composite retrotransposon that occurs widely in hominoids and is considered to have been generated by stepwise fusions of three genetic elements: SINE-R, a variable number of tandem repeat (VNTR) sequence, and Alu. We identified a novel transposon whose basic structure is the same as that of SVA, with one prominent difference being the presence of part of prostaglandin reductase 2 (PTGR2) in place of SINE-R. We designate this composite transposon as PVA and propose two possible mechanisms regarding its generation. One is the derivation of PVA from SVA: the SINE-R region of SVA was replaced with a PTGR2 fragment by template switching. The other is the formation of PVA independently of SVA: a PTGR2 fragment was fused to an evolutionary intermediate comprising the VNTR and Alu regions. The nucleotide sequence of the junction between the VNTR and PTGR2 regions supports the second hypothesis. We identified PVA in the white-cheeked gibbon Nomascus leucogenys by analysis of genome sequence databases, and subsequent experimental analysis revealed its presence in all four gibbon genera. The white-cheeked gibbon harbors at least 93 PVA copies in its haploid genome. Another SVA-like composite transposon carrying parts of the LINE1 and Alu transposons in place of SINE-R, designated as LAVA, has recently been reported. The significance of the discovery of PVA is that its substituted fragment originates not from a transposon but from a single-copy gene. PVA should provide additional insights into the transposition mechanism of this type of composite transposon; the transposition activity is conferred even if the substituted fragment is not related to a transposon.


Assuntos
Hylobates , Retroelementos , Animais , Sequência de Bases , Evolução Biológica , Evolução Molecular , Genoma , Humanos , Repetições Minissatélites
15.
J Hum Genet ; 57(12): 760-5, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22931862

RESUMO

Hoolock hoolock (the western hoolock gibbon) is a species of the family Hylobatidae (small apes), which constitutes the superfamily Hominoidea (hominoids) together with Hominidae (great apes and human). Here, we report that centromeres or their vicinities in this gibbon species contain tandem repeat sequences that consist of 35-50-bp repeat units, and exhibit a sequence similarity with the variable number of tandem repeat (VNTR) region of the SVA, LAVA and PVA transposons. SVA is a composite retrotransposon thought to have been formed by fusion of three solo elements in the common ancestor of hominoids. LAVA and PVA are recently identified retrotransposons that have the same basic structure as SVA. Thus, the large-scale tandem repeats in the centromere region may have been derived from one or more of SVA-type transposons, including the three mentioned above and other yet unknown elements, or the repeat sequences could have served as a source for such elements. Amplification of VNTR-related sequences in another gibbon species, Hoolock leuconedys (eastern hoolock gibbon), has recently been reported, but it is yet to be examined whether the large-scale tandem repeats observed in the two species originated from a single event that occurred in their common ancestor. The repeat sequences in the western hoolock gibbon are mostly 40 kb or more in length, are present in 28 of the 38 chromosomes of the somatic cells, and are homozygous for chromosomal presence/absence.


Assuntos
Evolução Biológica , Centrômero/genética , Repetições Minissatélites/genética , Retroelementos/genética , Animais , Feminino , Gorilla gorilla , Humanos , Hylobates , Hibridização in Situ Fluorescente , Macaca mulatta , Masculino , Pan troglodytes , Filogenia
16.
Parasitol Int ; 61(4): 684-9, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22831897

RESUMO

Chromosomes of schistosome parasites among digenetic flukes have a unique evolution because they exhibit the sex chromosomes ZW, which are not found in the other groups of flukes that are hermaphrodites. We conducted molecular cytogenetic analyses for investigating the sex chromosome evolution using chromosome paint analysis and BAC clones mapping. To carry this out, we developed a technique for making paint probes of genomic DNA from a single scraped chromosome segment using a chromosome microdissection system, and a FISH mapping technique for BAC clones. Paint probes clearly identified each of the 8 pairs of chromosomes by a different fluorochrome color. Combination analysis of chromosome paint analysis with Z/W probes and chromosome mapping with 93 BAC clones revealed that the W chromosome of Schistosoma mansoni has evolved by at least four inversion events and heterochromatinization. Nine of 93 BAC clones hybridized with both the Z and W chromosomes, but the locations were different between Z and W chromosomes. The homologous regions were estimated to have moved from the original Z chromosome to the differentiated W chromosome by three inversions events that occurred before W heterohcromatinization. An inversion that was observed in the heterochromatic region of the W chromosome likely occurred after W heterochromatinization. These inversions and heterochromatinization are hypothesized to be the key factors that promoted the evolution of the W chromosome of S. mansoni.


Assuntos
Mapeamento Cromossômico/métodos , Coloração Cromossômica , Cromossomos Artificiais Bacterianos , Evolução Molecular , Schistosoma mansoni/genética , Cromossomos Sexuais/genética , Animais , DNA de Helmintos/genética
17.
PLoS Genet ; 7(8): e1002203, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21876673

RESUMO

The endemic cichlid fishes in Lake Victoria are a model system for speciation through adaptive radiation. Although the evolution of the sex-determination system may also play a role in speciation, little is known about the sex-determination system of Lake Victoria cichlids. To understand the evolution of the sex-determination system in these fish, we performed cytogenetic analysis in 11 cichlid species from Lake Victoria. B chromosomes, which are present in addition to standard chromosomes, were found at a high prevalence rate (85%) in these cichlids. In one species, B chromosomes were female-specific. Cross-breeding using females with and without the B chromosomes demonstrated that the presence of the B chromosomes leads to a female-biased sex ratio in this species. Although B chromosomes were believed to be selfish genetic elements with little effect on phenotype and to lack protein-coding genes, the present study provides evidence that B chromosomes have a functional effect on female sex determination. FISH analysis using a BAC clone containing B chromosome DNA suggested that the B chromosomes are derived from sex chromosomes. Determination of the nucleotide sequences of this clone (104.5 kb) revealed the presence of several protein-coding genes in the B chromosome, suggesting that B chromosomes have the potential to contain functional genes. Because some sex chromosomes in amphibians and arthropods are thought to be derived from B chromosomes, the B chromosomes in Lake Victoria cichlids may represent an evolutionary transition toward the generation of sex chromosomes.


Assuntos
Cromossomos/genética , Ciclídeos/genética , Animais , Evolução Molecular , Feminino , Lagos , Filogenia , Análise para Determinação do Sexo
18.
BMC Evol Biol ; 10: 225, 2010 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-20650009

RESUMO

BACKGROUND: Mammalian sex-chromosomes originated from a pair of autosomes. A step-wise cessation of recombination is necessary for the proper maintenance of sex-determination and, consequently, generates a four strata structure on the X chromosome. Each stratum shows a specific per-site nucleotide sequence difference (p-distance) between the X and Y chromosomes, depending on the time of recombination arrest. Stratum 4 covers the distal half of the human X chromosome short arm and the p-distance of the stratum is approximately 10%, on average. However, a 100-kb region, which includes KALX and VCX, in the middle of stratum 4 shows a significantly lower p-distance (1-5%), suggesting frequent sequence exchanges or gene conversions between the X and Y chromosomes in humans. To examine the evolutionary mechanism for this low p-distance region, sequences of a corresponding region including KALX/Y from seven species of non-human primates were analyzed. RESULTS: Phylogenetic analysis of this low p-distance region in humans and non-human primate species revealed that gene conversion like events have taken place at least ten times after the divergence of New World monkeys and Catarrhini (i.e., Old World monkeys and hominoids). A KALY-converted KALX allele in white-handed gibbons also suggests a possible recent gene conversion between the X and Y chromosomes. In these primate sequences, the proximal boundary of this low p-distance region is located in a LINE element shared between the X and Y chromosomes, suggesting the involvement of this element in frequent gene conversions. Together with a palindrome on the Y chromosome, a segmental palindrome structure on the X chromosome at the distal boundary near VCX, in humans and chimpanzees, may mediate frequent sequence exchanges between X and Y chromosomes. CONCLUSION: Gene conversion events between the X and Y homologous regions have been suggested, mainly in humans. Here, we found frequent gene conversions in the evolutionary course of primates. An insertion of a LINE element at the proximal end of the region may be a cause for these frequent conversions. This gene conversion in humans may also be one of the genetic causes of Kallmann syndrome.


Assuntos
Evolução Molecular , Conversão Gênica , Primatas/genética , Cromossomo X/genética , Cromossomo Y/genética , Animais , Sequência de Bases , Humanos , Dados de Sequência Molecular , Análise de Sequência de DNA
19.
Nature ; 460(7253): 352-8, 2009 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-19606141

RESUMO

Schistosoma mansoni is responsible for the neglected tropical disease schistosomiasis that affects 210 million people in 76 countries. Here we present analysis of the 363 megabase nuclear genome of the blood fluke. It encodes at least 11,809 genes, with an unusual intron size distribution, and new families of micro-exon genes that undergo frequent alternative splicing. As the first sequenced flatworm, and a representative of the Lophotrochozoa, it offers insights into early events in the evolution of the animals, including the development of a body pattern with bilateral symmetry, and the development of tissues into organs. Our analysis has been informed by the need to find new drug targets. The deficits in lipid metabolism that make schistosomes dependent on the host are revealed, and the identification of membrane receptors, ion channels and more than 300 proteases provide new insights into the biology of the life cycle and new targets. Bioinformatics approaches have identified metabolic chokepoints, and a chemogenomic screen has pinpointed schistosome proteins for which existing drugs may be active. The information generated provides an invaluable resource for the research community to develop much needed new control tools for the treatment and eradication of this important and neglected disease.


Assuntos
Genoma Helmíntico/genética , Schistosoma mansoni/genética , Animais , Evolução Biológica , Éxons/genética , Genes de Helmintos/genética , Interações Hospedeiro-Parasita/genética , Íntrons/genética , Dados de Sequência Molecular , Mapeamento Físico do Cromossomo , Schistosoma mansoni/efeitos dos fármacos , Schistosoma mansoni/embriologia , Schistosoma mansoni/fisiologia , Esquistossomose mansoni/tratamento farmacológico , Esquistossomose mansoni/parasitologia
20.
Acta Neurobiol Exp (Wars) ; 69(4): 537-44, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-20048768

RESUMO

The objective of this study was to test the hypothesis that activity-behavioral sleep parameters differ between nocturnallyactive owl monkeys and diurnally-active squirrel monkeys which are sympatric and of Bolivian origin. The total sleep time (TST) and sleep episode length (SEL) of 7 adult owl monkey siblings and 4 adult squirrel monkeys were quantitated by actigraphy for 7 days under captive conditions. The higher TST/24 h values and longer SEL/12 h quiescent phase quantitated for owl monkeys in comparison to that of squirrel monkeys clearly indicate that the behavioral sleep is markedly different between these two groups, though they are sympatric in wild. Significant differences noted in the sleep architecture between squirrel monkeys and owl monkeys can be attributed to the influences in the selected sleep niche, threat perception from predators, and disturbances from natural elements (especially rain) in the natural habitat.


Assuntos
Aotidae/fisiologia , Comportamento Animal/fisiologia , Saimiri/fisiologia , Sono/fisiologia , Actigrafia/métodos , Animais , Feminino , Masculino , Polissonografia/métodos
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