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.

Processo maturacional, insatisfação corporal e comportamento alimentar inadequado em jovens atletas

Objetivo O objetivo deste estudo foi analisar a associação entre o processo maturacional, a insatisfação corporal e o comportamento alimentar inadequado, de acordo com o sexo, em jovens atletas. Métodos Participaram da pesquisa 580 indivíduos, de ambos os sexos, pertencentes a diferentes modalidades esportivas. Foram avaliados a maturação sexual, a maturação somática, a insatisfação corporal e o comportamento alimentar inadequado, por meio dos Critérios de Tanner, banco de Lohman, Body Shape Questionnaire e Eating Attitudes Test, respectivamente. O percentual de gordura foi estimado pela medição das dobras cutâneas, e a aferição de peso e de estatura foi utilizada para calcular o índice de massa corporal. Realizaram-se modelo Univariado de Covariância, regressão logística binária e regressão linear múltipla para análise dos dados. Resultados Os resultados demonstraram diferenças estatisticamente significativas (p<0,05) na insatisfação corporal entre os estágios maturacionais. Além disso, os meninos pré-púberes e púberes apresentaram maior probabilidade de insatisfação corporal em relação aos atletas pós-púberes (p<0,05), e o modelo de regressão logística mostrou associação entre os estágios maturacionais e o comportamento alimentar inadequado apenas no sexo masculino (p<0,05). Nas meninas, o processo maturacional explicou em 9% e 7% a variância da insatisfação corporal (p<0,05) e comportamento alimentar inadequado (p<0,05), respectivamente.

The effect of ploidy on the fatty acid profile during the reproductive cycle of female rainbow trout (Oncorhynchus mykiss)

Rainbow trout Oncorhynchus mykiss triploids are regularly produced in fish farms to improve growth because the triploid females do not develop ovaries during the reproductive cycle. In this study, the tissue fatty acid allocations in triploid and diploid females were compared during the reproductive cycle to determine whether the ploidy influences the fatty acid profile of fish produced in aquaculture. The ovaries, liver, and white muscle fatty acid contents of diploid and triploid females were analyzed during the reproductive cycle. Diploid females tend to accumulate more polyunsaturated fatty acids than triploids during some phases of the reproductive cycle, and this profile was compensated by an increase in saturated and monounsaturated fatty acids in triploid females. Arachidonic acid (C20:4n6) was the main n6 polyunsaturated fatty acid in the ovaries of diploid females during the most advanced phases of the reproductive cycle, and docosahexaenoic acid (C22:6n3) was the main n3 polyunsaturated fatty acid. In triploid females, the percentage of both of these polyunsaturated fatty acids was lower than in diploid females during the most advanced phases of the reproductive cycle. In general, the lack of ovary development altered the hepatic synthesis of some fatty acids, mainly monounsaturated and polyunsaturated fatty acids, decreasing the content of the main fatty acids in the white muscle and, consequently, the mobilization of these specific fatty acids to the ovaries.

An ancient founder mutation in PROKR2 impairs human reproduction

Congenital gonadotropin-releasing hormone (GnRH) deficiency manifests as absent or incomplete sexual maturation and infertility. Although the disease exhibits marked locus and allelic heterogeneity, with the causal mutations being both rare and private, one causal mutation in the prokineticin receptor, PROKR2 L173R, appears unusually prevalent among GnRH-deficient patients of diverse geographic and ethnic origins. To track the genetic ancestry of PROKR2 L173R, haplotype mapping was performed in 22 unrelated patients with GnRH deficiency carrying L173R and their 30 first-degree relatives. The mutations age was estimated using a haplotype-decay model. Thirteen subjects were informative and in all of them the mutation was present on the same approximate to 123 kb haplotype whose population frequency is 10. Thus, PROKR2 L173R represents a founder mutation whose age is estimated at approximately 9000 years. Inheritance of PROKR2 L173R-associated GnRH deficiency was complex with highly variable penetrance among carriers, influenced by additional mutations in the other PROKR2 allele (recessive inheritance) or another gene (digenicity). The paradoxical identification of an ancient founder mutation that impairs reproduction has intriguing implications for the inheritance mechanisms of PROKR2 L173R-associated GnRH deficiency and for the relevant processes of evolutionary selection, including potential selective advantages of mutation carriers in genes affecting reproduction.

Leptin signaling in Kiss1 neurons arises after pubertal development

The adipocyte-derived hormone leptin is required for normal pubertal maturation in mice and humans and, therefore, leptin has been recognized as a crucial metabolic cue linking energy stores and the onset of puberty. Several lines of evidence have suggested that leptin acts via kisspeptin expressing neurons of the arcuate nucleus to exert its effects. Using conditional knockout mice, we have previously demonstrated that deletion of leptin receptors (LepR) from kisspeptin cells cause no puberty or fertility deficits. However, developmental adaptations and system redundancies may have obscured the physiologic relevance of direct leptin signaling in kisspeptin neurons. To overcome these putative effects, we re-expressed endogenous LepR selectively in kisspeptin cells of mice otherwise null for LepR, using the Cre-loxP system. Kiss1-Cre LepR null mice showed no pubertal development and no improvement of the metabolic phenotype, remaining obese, diabetic and infertile. These mice displayed decreased numbers of neurons expressing Kiss1 gene, similar to prepubertal control mice, and an unexpected lack of re-expression of functional LepR. To further assess the temporal coexpression of Kiss1 and Lepr genes, we generated mice with the human renilla green fluorescent protein (hrGFP) driven by Kiss1 regulatory elements and crossed them with mice that express Cre recombinase from the Lepr locus and the R26-tdTomato reporter gene. No coexpression of Kiss1 and LepR was observed in prepubertal mice. Our findings unequivocally demonstrate that kisspeptin neurons are not the direct target of leptin in the onset of puberty. Leptin signaling in kisspeptin neurons arises only after completion of sexual maturation.