RESUMO
Understanding how megaherbivores incorporate habitat features into their foraging behavior is key toward understanding how herbivores shape the surrounding landscape. While the role of habitat structure has been studied within the context of predator-prey dynamics and grazing behavior in terrestrial systems, there is a limited understanding of how structure influences megaherbivore grazing in marine ecosystems. To investigate the response of megaherbivores (green turtles) to habitat features, we experimentally introduced structure at two spatial scales in a shallow seagrass meadow in The Bahamas. Turtle density increased 50-fold (to 311 turtles ha-1 ) in response to the structures, and turtles were mainly grazing and resting (low vigilance behavior). This resulted in a grazing patch exceeding the size of the experimental setup (242 m2 ), with reduced seagrass shoot density and aboveground biomass. After structure removal, turtle density decreased and vigilance increased (more browsing and shorter surfacing times), while seagrass within the patch partly recovered. Even at a small scale (9 m2 ), artificial structures altered turtle grazing behavior, resulting in grazing patches in 60% of the plots. Our results demonstrate that marine megaherbivores select habitat features as foraging sites, likely to be a predator refuge, resulting in heterogeneity in seagrass bed structure at the landscape scale.
Assuntos
Ecossistema , Tartarugas , Animais , Tartarugas/fisiologia , Biomassa , Herbivoria , BahamasRESUMO
The genetic variance at seven Y-chromosomal microsatellite loci (or short tandem repeats [STRs]) was studied among 986 male individuals from 20 globally dispersed human populations. A total of 598 different haplotypes were observed, of which 437 (73.1%) were each found in a single male only. Population-specific haplotype-diversity values were.86-.99. Analyses of haplotype diversity and population-specific haplotypes revealed marked population-structure differences between more-isolated indigenous populations (e.g., Central African Pygmies or Greenland Inuit) and more-admixed populations (e.g., Europeans or Surinamese). Furthermore, male individuals from isolated indigenous populations shared haplotypes mainly with male individuals from their own population. By analysis of molecular variance, we found that 76.8% of the total genetic variance present among these male individuals could be attributed to genetic differences between male individuals who were members of the same population. Haplotype sharing between populations, phi(ST) statistics, and phylogenetic analysis identified close genetic affinities among European populations and among New Guinean populations. Our data illustrate that Y-chromosomal STR haplotypes are an ideal tool for the study of the genetic affinities between groups of male subjects and for detection of population structure.
Assuntos
Variação Genética/genética , Haplótipos/genética , Repetições de Microssatélites/genética , Filogenia , Cromossomo Y/genética , África , Alelos , Ásia , Europa (Continente) , Evolução Molecular , Frequência do Gene/genética , Testes Genéticos , Humanos , Masculino , Método de Monte Carlo , Nova Guiné , América do SulRESUMO
Two-thirds of patients affected by Duchenne or Becker muscular dystrophy (DMD/BMD) carry large intra-genic deletions in the dystrophin gene. In males, the deletions can be efficiently detected using multiplex polymerase chain reaction (PCR) and Southern blotting. In contrast, deletion detection in carrier females is complicated by the presence of a normal gene copy on the second X-chromosome. We have analyzed the boundaries of 570 deletions and 34 duplications in the dystrophin gene identified in the São Paulo and Leiden diagnostic laboratories. The data were used to select an optimal set of cosmid probes for the detection of the most frequently deleted areas of the dystrophin gene. Six cosmids were evaluated in fluorescence in situ hybridization (FISH) experiments to assess deletions in 21 heterozygous deletion-carriers and nine controls. No discrepancy was found between the FISH analysis and the molecular data, demonstrating the accuracy of the technique for carrier detection in Duchenne and Becker muscular dystrophy.
Assuntos
Distrofina/genética , Genes/genética , Distrofias Musculares/genética , Sondas de DNA , Éxons/genética , Deleção de Genes , Heterozigoto , Humanos , Hibridização in Situ Fluorescente , Distrofias Musculares/diagnósticoRESUMO
Autosomal recessive limb-girdle muscular dystrophies (AR LGMD) represent a group of muscle diseases with a wide spectrum of clinical signs, varying from very severe to mild. Four different loci that when mutated cause the AR LGMD phenotype have been mapped or cloned or both: in two of them the linked families seem to have a relatively mild phenotype (LGMD2a and LGMD2b), in the third one the reported linked families show a more severe clinical course (LGMD2c), while mutations in the fourth locus may cause severe or mild phenotypes (LGMD2d). The relative proportion of each of these genetic forms among the LGMD families and whether there are other genes that when mutated cause this phenotype is unknown. The closest available informative markers for each of the mapped AR LGMD genes have been tested in 13 Brazilian families with at least three affected patients. The findings from the present report confirm non-allelic heterogeneity for LGMD and suggest that in our population about 33% of the LGMD families are caused by mutations in the 15q gene, 33% in the 2p gene, 17% by mutations in the adhalin gene, and less than 10% may be by mutations at the 13q locus. They also suggest that there is at least one other gene responsible for this phenotype. In addition, the main clinical features of the different forms are discussed.
Assuntos
Cromossomos Humanos Par 13/genética , Cromossomos Humanos Par 15/genética , Cromossomos Humanos Par 17/genética , Cromossomos Humanos Par 2/genética , Genes Recessivos , Heterogeneidade Genética , Distrofias Musculares/genética , Adolescente , Adulto , Brasil/epidemiologia , Calpaína/deficiência , Calpaína/genética , Criança , Pré-Escolar , Consanguinidade , Proteínas do Citoesqueleto/genética , Feminino , Marcadores Genéticos , Genótipo , Humanos , Escore Lod , Masculino , Glicoproteínas de Membrana/genética , Distrofias Musculares/classificação , Distrofias Musculares/epidemiologia , Distrofias Musculares/patologia , Linhagem , Fenótipo , SarcoglicanasRESUMO
The mild autosomal recessive limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of muscle diseases. The first gene to be mapped and associated with this phenotype was a locus on 15q based on linkage analysis in families from a French geographic isolate. These results have been confirmed in other populations, but it was shown that there is genetic heterogeneity for this form of LGMD. Recently, a second locus has been mapped to chromosome 2p. The confirmation of the mapping of this second locus in LGMD families from different populations is of utmost importance for the positional cloning of this gene (HGMW-approved symbol LGMD2B). In this publication, haplotypes generated from five chromosome 2 markers from all of the known large families linked to chromosome 2p are reported together with the recombinants that show the current most likely location of the LGMD 2B gene.
Assuntos
Cromossomos Humanos Par 2 , Distrofias Musculares/genética , Mapeamento Cromossômico , Feminino , Genes Recessivos , Haplótipos/genética , Humanos , Escore Lod , Masculino , Distrofias Musculares/classificação , LinhagemRESUMO
Duchenne-like muscular dystrophy (DLMD) is an autosomal recessive (AR) muscular dystrophy which presents a clinical course indistinguishable from the Xp21 Duchenne muscular dystrophy or DMD. Recently, Othmane et al., based on a linkage study with 13q12 markers in 3 highly inbred DLMD families from Tunisia, suggested that the gene for this myopathy lies in the pericentromeric region of chromosome 13q. It is unknown if there is genetic heterogeneity causing the DLMD phenotype. Therefore, the aim of the present report is to describe the results of linkage analysis in 4 Brazilian DLMD families with 13q12 markers (D13S115 and D13S120), which were also tested for 50DAG. It was possible to exclude the 13q gene at theta = 0.10 as responsible for the DLMD phenotype in our families using both 13q12 markers, if the lod scores of each family were added up. Interestingly, 3 families were deficient for 50 DAG while one showed a positive pattern for this glycoprotein. Therefore, these results suggest: a) the DLMD phenotype is caused by more than one recessive gene; b) a gene, not located at 13q, causes deficiency of 50 DAG as a primary or secondary defect.
Assuntos
Cromossomos Humanos Par 13 , Proteínas do Citoesqueleto/genética , Glicoproteínas de Membrana/genética , Distrofias Musculares/genética , Cromossomo X , Brasil , Mapeamento Cromossômico , DNA/análise , DNA/sangue , DNA Satélite/genética , Feminino , Genes Recessivos , Ligação Genética , Marcadores Genéticos , Genótipo , Humanos , Escore Lod , Masculino , Fenótipo , Sarcoglicanas , TunísiaRESUMO
The gene responsible for facioscapulohumeral muscular dystrophy (FSHD), an autosomal dominant neuromuscular condition, has been mapped to chromosome 4. Until recently, the two closest available markers were D4S139 and D4S163 but a new marker (p13E-11) which recognizes de novo rearrangements in isolated cases of FSHD characterized by shorter EcoRI fragments has been now identified. Linkage analysis in FSHD families with p13E-11 shows that usually a smaller fragment segregates with the disease gene among the affected individuals from each genealogy. In the present paper, we report the results from linkage analysis with the marker loci D4S163 and D4S139 in 6 FSHD families and with p13E-11 in these and in 6 other additional Brazilian families (total of 12). The results from such analysis do not suggest genetic heterogeneity for FSHD in our population. In 11 out of the 12 families studied with p13E-11, a shorter specific EcoRI band was found to segregate in all affected patients from each genealogy. In one family, the normal individuals had a smaller EcoRI fragment than the affected ones. The size of the EcoRI fragments detected with p13E-11 varied from 13.5 to 29 kb but was constant within each genealogy. Our results suggest that the use of the marker p13E-11 for preclinical and prenatal diagnosis should be done only in families in which it is possible to identify the fragments segregating among the affected individuals.
Assuntos
Cromossomos Humanos Par 4 , Distrofias Musculares/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil , Criança , Pré-Escolar , Sondas de DNA , Feminino , Genes Dominantes , Ligação Genética , Marcadores Genéticos , Humanos , Escore Lod , Masculino , Pessoa de Meia-Idade , Distrofias Musculares/diagnóstico , Mutação , LinhagemRESUMO
X-linked mental retardation (XLMR) can be subdivided into syndromic and nonsyndromic or nonspecific. Patients with non-syndromal XLMR show no characteristic manifestations, biochemical defects, or distinct fragile sites. Nevertheless, nonspecific XLMR seems to be heterogeneous. To determine the number and location of the genes responsible for XLMR, linkage studies in large pedigrees have to be performed. Here we report the data of linkage analysis in a large Brazilian family with 7 patients affected by a severe form of XLMR, with no other associated malformations. All the obligate carriers are normal. A close linkage without recombination (lod scores 1.95 and 3.25) was found between the disease locus and polymorphic DNA loci DXS255 (Xp11.22), DXS14 (Xp11.21). These results suggest that the gene responsible for the disease in this family maps in the Xp11-cent of the X chromosome. Positive lod scores in this region have also been reported for other XLMR genealogies, but with a much milder phenotype. The possibility of intragenic or locus heterogeneity is discussed.
Assuntos
Ligação Genética , Deficiência Intelectual/genética , Cromossomo X , Adolescente , Adulto , Criança , Mapeamento Cromossômico , Feminino , Genes Recessivos , Marcadores Genéticos , Humanos , Escore Lod , Masculino , Pessoa de Meia-Idade , Linhagem , FenótipoAssuntos
Cromossomos Humanos Par 15 , Distrofias Musculares/genética , Adolescente , Brasil , Criança , Feminino , Genes Recessivos , Marcadores Genéticos , Humanos , Escore Lod , Masculino , Linhagem , Fenótipo , Recombinação GenéticaRESUMO
O gene da distrofina, localizado em Xp21, é um loco gênico enorme, ocupando uma regiäo de mais de 2,3 Mb. Mutaçöes neste gene resultam na distrofia muscular Duchenne (DMD) ou distrofia muscular Becker (DMB). Cerca de 60% das mutaçöes säo deleçöes com um tamanho médio de 200 kb e säo detectáveis por análise de Southern blot usando sondas cDNA. Em 1988 Chamberlain et al. descreveram uma reaçäo multiplex para uma amplificaçäo simultânea de 9 exons do gene da distrofina, o que permitiu detectar cerca de 80% de todas as deleçöes. Recentemente Beggs et al. descreveram um conjunto adicional de primers para um teste multiplex de mais 9 exons. Usamos no Rio de Janeiro ambas as reaçöes multiplex no estudo de 27 pacientes DMD e 4 DMB. A síntese dos primers e o preparo dos kits foram realizados em Leiden. Com a reaçäo multiplex de Vhamberlain detectamos 10 deleçöes. A segunda reaçäo multiplex (Beggs) confirmou 7 dessas deleçöes e detectou mais 2 pacientes com deleçöes, uma para o exon 50 e outra para o exon 52. A análise Southern blot e a hibridizaçäo cDNA foram usadas para confirmar as deleçöes e determinar-lhes a extensäo. As sondas cDNA confirmaram as 12 deleçöes detectadas usando as duas reaçöes multiplex. Nossa experiência é a de que a abordagem multiplex para triagem inicial de deleçöes é um método bom e confiável