Chromosome analysis in Pseudopaludicola (Anura, Leiuperidae), with description of sex chromosomes XX/XY in P-saltica

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Dental age in patients with Down syndrome

The aim of this research was to evaluate dental age in 102 patients with Down Syndrome, using panoramic radiographs. A software program developed by the Discipline of Radiology, School of Dentistry of São José dos Campos, São Paulo State University (UNESP), was used. A table of mineralization chronology of permanent teeth among Brazilians conceived by Nicodemo, Moraes and Medici Filho was used within the software. Statistical analysis of the results showed that 70.91% of the males land 61.21% of the females presented advanced dental age. Only 32.09% of the males and 39.79% of the females presented delayed dental age. Regarding the differences between the dental and chronological ages, two thirds of the males and females presented dental age with differences of up to 12 months, which means that they can be considered to be within normal standards, whereas only 18.87% of the males and 10.21% of the females presented dental age outside normal standards, with differences of over 24 months. In conclusion, the majority of the patients with Down Syndrome were considered to be within the normal standards of mineralization chronology.

Comparative analysis of sex chromosomes in Leporinus species (Teleostei, Characiformes) using chromosome painting

Background: The Leporinus genus, belonging to the Anostomidae family, is an interesting model for studies of sex chromosome evolution in fish, particularly because of the presence of heteromorphic sex chromosomes only in some species of the genus. In this study we used W chromosome-derived probes in a series of cross species chromosome painting experiments to try to understand events of sex chromosome evolution in this family.Results: W chromosome painting probes from Leporinus elongatus, L. macrocephalus and L. obtusidens were hybridized to each others chromosomes. The results showed signals along their W chromosomes and the use of L. elongatus W probe against L. macrocephalus and L. obtusidens also showed signals over the Z chromosome. No signals were observed when the later aforementioned probe was used in hybridization procedures against other four Anostomidae species without sex chromosomes.Conclusions: Our results demonstrate a common origin of sex chromosomes in L. elongatus, L. macrocephalus and L. obtusidens but suggest that the L. elongatus chromosome system is at a different evolutionary stage. The absence of signals in the species without differentiated sex chromosomes does not exclude the possibility of cryptic sex chromosomes, but they must contain other Leporinus W sequences than those described here. © 2013 Parise-Maltempi et al.; licensee BioMed Central Ltd.

Evolução e organização genômica do gene FOXL2 em vertebrados

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Fatores que afetam a viabilidade e a proporção do sexo de embriões bovinos produzidos in vitro em programa de sexagem comercial

Pós-graduação em Ciência Animal - FMVA

Analisando a determinação sexual de vertebrados com base em redes de interação entre proteínas

Pós-graduação em Ciências Biológicas (Genética) - IBB

Isolamentos e caracterização de DETs(Differentially Expressed Transcripts) em espécies de peixes: Leporinus macrocephalus(Characiformes) e Danio rerio (Cypriniformes)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Influência do ambiente de nidificação sobre a taxa de eclosão, a duração da incubação e a determinação sexual em Podocnemis (Reptilia, Podocnemididae) no Tabuleiro do Embaubal rio Xingu, Pará

Nos quelônios, as características do ambiente de nidificação têm forte influência sobre a temperatura de incubação dos ovos e, consequentemente, sobre o sucesso reprodutivo. Foram investigados o efeito do ambiente de nidificação sobre a taxa de eclosão, a duração de incubação e a determinação sexual dos filhotes de Podocnemis expansa, Podocnemis unifilis e Podocnemis sextuberculata no Tabuleiro do Embaubal, rio Xingu, estado do Pará, Brasil, em 2007, 2008 e 2010. As praias foram monitoradas entre setembro e janeiro, com o acompanhamento dos ninhos marcados desde o dia de postura, em cada ciclo reprodutivo. As seguintes variáveis foram mensuradas: dia da desova, a profundidade final, a altura do ninho em relação ao nível da água no dia da desova a granulometria e a temperatura de incubação. A taxa de eclosão diferiu entre os anos para as três espécies. A duração de incubação variou entre anos apenas para P. sextuberculata. A razão sexual de P. expansa em 2007 foi 0.08 e em 2008 e 2010 todos os filhotes produzidos foram fêmeas. Para P. sextuberculata a razão sexual em 2007 foi 0.34, e em 2008 e 2010 foi 0.06. A razão sexual de P. unifilis em 2007 foi de 0.41, 0.65 em 2008 e 0.02 em 2010. Todas estas diferenças foram estatisticamente significativas. A altura do ninho com relação ao nível do rio apresentou correlação positiva com a taxa de eclosão das três espécies em 2008 e uma relação negativa com a taxa de eclosão de P. sextuberculata em 2010. O número de dias após o início das desovas influenciou a duração de incubação de P. sextuberculata e P. unifilis em 2008. A temperatura média, o número de horas/grau acima de 32°C e o tamanho do sedimento influenciou a razão sexual de P. expansa. Os resultados atestam para a variação no sucesso de eclosão, no desenvolvimento embrionário e na proporção sexual produzida entre os anos. Ainda, observou-se que a influência de variáveis microclimáticas dos sítios selecionados para desova, embora influenciem nas características térmicas e nas variáveis de interesse, podem variar de ano para outro. Recomenda-se o monitoramento continuado dos referidos parâmetros nas principais áreas onde se investe na proteção de sítios reprodutivos de quelônios.

Fatores que podem influenciar o sexo da cria em bovinos

To assess the possibility of shifting the sex ratio at birth, since this can contribute to enhancing the genetic gain and producity in cattle, this work is aimed at raising the factors that may influence sex determination of creates. This study is based on research conducted in the area of reproduction and production of beef and dairy cattle, some quotes in humans, mouse, dogs and a study in pigs. This was due to back of data and studies in the bovine species. It was noted that stress during pregnancy, intake of vitamin C or others substances and the time of artificial insemination are the factors that may influence the determination of the type of product. Human studies, concluded that woman more stressed are more likely to produce female children of the quietest. Furthermore, sows that received ascorbic a ad orally for seven days and were inseminated during this period, produce more female then those who did not receive the vitamin. These studies may suggest that cows can also suffer influence of stress and food for the determination of sex of calf. There are also studies suggesting that cows inseminated at the earliest time of ovulation ted to produce more male calves than those inseminated a few hours before that time. Some scholars considers the hypothesis... (Complete abstract click electronic access below)

Diversidade cariotípica e molecular de Leptodactylus (Anura, Leptodactylidae) e obtenção de sondas cromossomo-específicas de anfíbio por citometria de fluxo

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Gene copy number and differential gene expression in haploid and diploid males of the stingless bee, Melipona quadrifasciata

Complementary sex determination in Hymenoptera implies that heterozygosity at the sex locus leads to the development of diploid females, whereas hemizygosity results in haploid males. Diploid males can arise through inbreeding. In social species, these pose a double burden on colony fitness, from significant reduction in its worker force and through being less viable and fertile than haploid males. Apart from being "misfits", diploid males are of interest to assess molecular correlates for possibly ploidy-related bionomic differences. Herein, we generated suppression subtractive cDNA libraries from newly emerged haploid and diploid males of the stingless bee Melipona quadrifasciata to enrich for differentially expressed genes. Gene Ontology classification revealed that in haploid males more DEGs were related to stress responsiveness, biosynthetic processes, reproductive processes and spermatogenesis, whereas in diploid ones differentially expressed genes were associated with cellular organization, nervous system development and amino acid transport were prevalent. Furthermore, both libraries contained over 40 % ESTs representing possibly novel transcripts. Quantitative RT-PCR analyses confirmed the differential expression of a representative DEG set in newly emerged males. Several muscle formation and energy metabolism-related genes were under-expressed in diploid males. On including 5-day-old males in the analysis, changes in transcript abundance during sexual maturation were revealed.

Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis

Despite advances in our understanding of the mechanisms involved in sex determination and differentiation, the specific roles of many genes in these processes are not completely understood in humans. Both DMRT1 and FGF9 are among this group of genes. Dmrt1 controls germ cell differentiation, proliferation, migration and pluripotency and Sertoli cell proliferation and differentiation. Fgf9 has been considered a critical factor in early testicular development and germ cell survival in mice. We screened for the presence of DMRT1 and FGF9 mutations in 33 patients with 46,XY gonadal dysgenesis. No deletions in either DMRT1 or FGF9 were identified using the MLPA technique. Eight allelic variants of DMRT1 were identified, and in silico analysis suggested that the novel c.968-15insTTCTCTCT variant and the c.774G>C (rs146975077) variant could have potentially deleterious effects on the DMRT1 protein. Nine previously described FGF9 allelic variants and six different alleles of the 3' UTR microsatellite were identified. However, none of these DMRT1 or FGF9 variants was associated with increased 46,XY gonadal dysgenesis. In conclusion, our study suggests that neither DMRT1 nor FGF9 abnormalities are frequently involved in dysgenetic male gonad development in patients with non-syndromic 46,XY disorder of sex development. (C) 2012 Published by Elsevier Masson SAS.

The gene transformer-2 of Anastrepha fruit flies (Diptera, Tephritidae) and its evolution in insects

Abstract Background In the tephritids Ceratitis, Bactrocera and Anastrepha, the gene transformer provides the memory device for sex determination via its auto-regulation; only in females is functional Tra protein produced. To date, the isolation and characterisation of the gene transformer-2 in the tephritids has only been undertaken in Ceratitis, and it has been shown that its function is required for the female-specific splicing of doublesex and transformer pre-mRNA. It therefore participates in transformer auto-regulatory function. In this work, the characterisation of this gene in eleven tephritid species belonging to the less extensively analysed genus Anastrepha was undertaken in order to throw light on the evolution of transformer-2. Results The gene transformer-2 produces a protein of 249 amino acids in both sexes, which shows the features of the SR protein family. No significant partially spliced mRNA isoform specific to the male germ line was detected, unlike in Drosophila. It is transcribed in both sexes during development and in adult life, in both the soma and germ line. The injection of Anastrepha transformer-2 dsRNA into Anastrepha embryos caused a change in the splicing pattern of the endogenous transformer and doublesex pre-mRNA of XX females from the female to the male mode. Consequently, these XX females were transformed into pseudomales. The comparison of the eleven Anastrepha Transformer-2 proteins among themselves, and with the Transformer-2 proteins of other insects, suggests the existence of negative selection acting at the protein level to maintain Transformer-2 structural features. Conclusions These results indicate that transformer-2 is required for sex determination in Anastrepha through its participation in the female-specific splicing of transformer and doublesex pre-mRNAs. It is therefore needed for the auto-regulation of the gene transformer. Thus, the transformer/transfomer-2 > doublesex elements at the bottom of the cascade, and their relationships, probably represent the ancestral state (which still exists in the Tephritidae, Calliphoridae and Muscidae lineages) of the extant cascade found in the Drosophilidae lineage (in which tra is just another component of the sex determination gene cascade regulated by Sex-lethal). In the phylogenetic lineage that gave rise to the drosophilids, evolution co-opted for Sex-lethal, modified it, and converted it into the key gene controlling sex determination.

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

Abstract Background The association of balanced rearrangements with breakpoints near SOX9 [SRY (sex determining region Y)-box 9] with skeletal abnormalities has been ascribed to the presumptive altering of SOX9 expression by the direct disruption of regulatory elements, their separation from SOX9 or the effect of juxtaposed sequences. Case presentation We report on two sporadic apparently balanced translocations, t(7;17)(p13;q24) and t(17;20)(q24.3;q11.2), whose carriers have skeletal abnormalities that led to the diagnosis of acampomelic campomelic dysplasia (ACD; MIM 114290). No pathogenic chromosomal imbalances were detected by a-CGH. The chromosome 17 breakpoints were mapped, respectively, 917–855 kb and 601–585 kb upstream of the SOX9 gene. A distal cluster of balanced rearrangements breakpoints on chromosome 17 associated with SOX9-related skeletal disorders has been mapped to a segment 932–789 kb upstream of SOX9. In this cluster, the breakpoint of the herein described t(17;20) is the most telomeric to SOX9, thus allowing the redefining of the telomeric boundary of the distal breakpoint cluster region related to skeletal disorders to 601–585 kb upstream of SOX9. Although both patients have skeletal abnormalities, the t(7;17) carrier presents with relatively mild clinical features, whereas the t(17;20) was detected in a boy with severe broncheomalacia, depending on mechanical ventilation. Balanced and unbalanced rearrangements associated with disorders of sex determination led to the mapping of a regulatory region of SOX9 function on testicular differentiation to a 517–595 kb interval upstream of SOX9, in addition to TESCO (Testis-specific enhancer of SOX9 core). As the carrier of t(17;20) has an XY sex-chromosome constitution and normal male development for his age, the segment of chromosome 17 distal to the translocation breakpoint should contain the regulatory elements for normal testis development. Conclusions These two novel translocations illustrate the clinical variability in carriers of balanced translocations with breakpoints near SOX9. The translocation t(17;20) breakpoint provides further evidence for an additional testis-specific SOX9 enhancer 517 to 595 kb upstream of the SOX9 gene.

No evidence of predation causing female-biased sex ratios in marine pelagic copepods

Although sex ratios close to unity are expected in dioecious species, biased sex ratios are common in nature. It is essential to understand causes of skewed sex ratios in situ, as they can lead to mate limitation and have implications for the success of natural populations. Female-skewed sex ratios are commonly observed in copepods in situ. Here we discuss the challenges of copepod sex ratio research and provide a critical review of factors determining copepod sex ratios, focusing on 2 main objectives. The first is a critique of the male predation theory, which is currently the main process thought to be responsible for female-skewed sex ratios. It assumes that males have higher mortality because of increased vulnerability to predation during their search for mates. We show that there is little support for the male predation theory, that sex ratios skewed toward females occur in the absence of predation, that sex ratios are not related to predation pressure, and that where sex-skewed predation does occur, it is biased toward females. Our second objective is to suggest alternative hypotheses regarding the determination of sex ratios. We demonstrate that environmental factors, environmental sex determination and sex change have strong effects on copepod sex ratios, and suggest that differential physiological longevity of males and females may be more important in determining sex ratios than previously thought. We suggest that copepod sex ratios are the result of a mixture of factors.