Short communication: Prevalence of deleterious variants causing recessive disorders in Italian Chianina,Marchigiana and Romagnola cattle

In the last two decades, the molecular cause of six monogenic autosomal recessive disorders has been identified in native Italian beef cattle: two different ATP2A1 variants for the pseudomyotonia congenita, the first in Chianina and Romagnola (PMT1) and the second in Romagnola (PMT2); a KDM2B variant for the paunch calf syndrome (PCS) in Marchigiana and Romagnola; a NID1 variant for the congenital cataract (CC) in Romagnola; a LAMB1 variant for the hemifacial microsomia (HFM) in Romagnola; an ABCA12 variant for the ichthyosis fetalis (IF) in Chianina and a FA2H variant for the ichthyosis congenita (IC) in Chianina. The aim of this study was to evaluate the potential impact of these disorders in the affected Italian populations. For this purpose, 3331 Chianina, 2812 Marchigiana and 1680 Romagnola bulls born in the last 40 years were considered. The allelic frequency (AF) of the variant for PMT1 was 1.0% in Romagnola, 4.6% in Marchigiana and 5.9% in Chianina. The AF of the variant for PMT2 was 3.3% in Romagnola and 0% in the other two breeds. The AF of the variant for PCS was 11.7% in Romagnola, 2.0% in Marchigiana and 0% in Chianina. The AF of the variants for CC, HFM, IF and IC resulted below 3%, being the variants detected only in the breed populations in which they were previously reported. Considering a selected male population in the single breed, Chianina showed carrier prevalence of 11.9% for PMT1, 7.7% for IC and 6.4% for IF. Romagnola showed carrier prevalence of 23.4% for PCS, 6.7% for PMT2, 4.1% for HFM, 3.2% for CC and 2.0% for PMT1. Marchigiana showed carrier prevalence of 9.1% for PMT1 and 4.0% for PCS. With respect to the Romagnola cattle, the concerning presence of a total of five defect alleles in the population hampers a general approach based on the prevention of carriers from artificial insemination. However, identification of carriers may allow conscious mating to prevent the risk of homozygous descendants as well as the spread of heterozygous offspring. Therefore, systematic genotyping for all seven known harmful alleles is recommended to prevent risk mating between carriers, in particular to avoid the occurrence of affected offspring.     

条形柄锈菌34号生理小种的分子标记

条形柄锈菌Puccinia striiformis f. sp. tritici 34号生理小种(CYR34)是目前我国毒性谱最宽、毒性最强的生理小种,对小麦生产和抗病品种选育造成了极大的影响。本研究采用RAPD-SCAR分子标记技术,从300条RAPD随机引物中筛选到CYR34的特异引物,通过特异性片段回收、克隆和测序(GenBank登录号为OL907303),依据序列设计出了S2008F34/S2008R34特异性引物,能够从CYR34及接种CYR34的小麦发病叶片总DNA中都扩增出417 bp的目标片段。采用该特异性引物检测2021年陕西渭南、咸阳和宝鸡地区小麦条锈菌CYR34的流行频率分别为8.6%、6.0%和10.8%。该项研究为小麦条锈菌CYR34号生理小种的快速检测提供了技术支撑。     

中国东部海岛森林和灌丛土壤碳氮磷养分库的纬度变化

虽然海岛结构相对简单,但在生物多样性和生态功能维持方面起重要作用.以中国东部暖温带、北亚热带、中亚热带和南亚热带的14个海岛为对象,研究森林土壤碳和氮磷养分库的纬度变化特征,并分析其与气候因子和植物多样性的关系.结果表明:土壤碳和氮磷养分库在温度带间差异显著,土壤碳库与氮库在暖温带最低,分别为49.35和1.08 t·hm^-2,在北亚热带最高,为137.25和4.63 t·hm^-2;磷库在南亚热带海岛最低,为1.3 t·hm^-2,在北亚热带最高,为5.19 t·hm^-2.各植被类型土壤碳氮磷库在不同温度带间存在显著差异,落叶林土壤碳氮磷库在亚热带高于暖温带;常绿阔叶林土壤碳和氮库不受温度带影响,磷库在北亚热带和中亚热带显著高于南亚热带.年均温、年降水量、土壤含水量和植物物种多样性间的交互作用对土壤碳氮磷库有显著正向影响;植物物种多样性对土壤氮库变化有正向影响,但对磷库具有负向影响.海岛森林土壤碳库的纬度变化趋势与大陆相反,土壤氮磷养分库变化格局与大陆相似;其中,水热和植物物种多样性是驱动中国东部海岛森林土壤碳氮磷库变化的主要非生物和生物因素.     

Spatial and temporal variation in the diet of the sandy beach gastropod Olivella minuta

Marine gastropods exert a strong influence on the structure of marine ecosystems through their foraging activities, yet little is known about how environmental differences in space and time may affect their feeding behavior. To enhance the knowledge about the trophic ecology of coastal benthic species, we investigated temporal and spatial variations in the diet of the sandy beach gastropod Olivella minuta. We collected individuals of O. minuta seasonally, over 1 year, at two sandy beaches with different morphodynamic characteristics (Araçá Bay, an ultra‐dissipative tidal flat, and Barequeçaba Beach, a dissipative beach) and analyzed the stomach contents of specimens of O. minuta. We identified approximately 15,000 food items, which we grouped into 14 categories. Thirteen food categories were found at each area, but significant differences in diet were observed between sites and sampling periods. Individuals from Araçá consumed an overall larger quantity and diversity of food items, which consisted mainly of foraminiferans, polychaetes, and crustaceans. At Barequeçaba, diatoms were the most important item, followed by crustaceans and polychaetes. Temporal variation depended on sites: the number of food items in the stomachs of individuals of O. minuta and dietary composition was roughly constant over time at Araçá, whereas larger variations were observed at Barequeçaba. Although O. minuta has been previously characterized as a carnivore/scavenger, our results show that the diet of this species varies in space and time and comprises a large variety of food resources. The species thus plays a role in the cycling of both vegetal and animal organic matter. This generalist behavior may allow individuals to shift their diet according to habitat alterations and food availability, thereby enhancing the persistence and resilience of O. minuta in different environments or future climate change scenarios.     

Effect of hydrophilic swellable polymers on dissolution enhancement of carbamazepine solid dispersions studied using response surface methodology

The objective of this work was to study dissolution enhancement efficiency and solid dispersion formation ability of hydrophilic swellable polymers such as sodium carboxymethyl cellulose (Na-CMC), sodium starch glycolate (SSG), pregelatinized starch (PGS), and hydroxypropylmethyl cellulose (HPMC) with carbamazepine using 3² full factorial design for each of the polymers. Solid dispersions of carbamazepine were prepared using solvent evaporation method with around 70% solvent recovery. The independent variables were the amount of polymer and organic solvent. The dependent variables assessed were percentage drug dissolved at various time points and dispersion efficiency (ie, in terms of particle size of solid dispersion). Solid dispersions were evaluated for percentage drug dissolved, wettability, differential scanning calorimetry, scanning electron microscopy, and angle of repose. Multiple linear regression of results obtained led to equations, which generated contour plots to relate the dependent variables. Similarity factor and mean dissolution time were used to compare dissolution patterns obtained in distilled water and simulated gastric fluid United States Pharmacopeia (USP) XXVI of pH 1.2. Maximum drug dissolution was obtained with polymer order Na-CMC>SSG>PGS>HPMC. Particle size of drug was reduced ≈ 10–15, 3–5, 5–7, and 10–25 times in Na-CMC, SSG, PGS, and HPMC solid dispersions, respectively; whereas wettability of solid dispersions was found in the order of Na-CMC>HPMC>PGS>SSG. Angle of repose was found to be in the range of 29° to 35° for all solid dispersions, which shows good flowability characteristics. HPMC showed increase in drug dissolution up to an optimized level; however, furthers increase in its concentration decreased drug dissolution. Published: April 6, 2007     

Latency represents sound frequency in mouse IC

Frequency is one of the fundamental parameters of sound.The frequency of an acoustic stimulus can be represented by a neural response such as spike rate,and/or first spike latency(FSL)of a given neuron.The spike rates/frequency function of most neurons changes with different acoustic ampli-tudes,whereas FSL/frequency function is highly stable.This implies that FSL might represent the fre-quency of a sound stimulus more efficiently than spike rate.This study involved representations of acoustic frequency by spike rate and FSL of central inferior colliculus(IC)neurons responding to free-field pure-tone stimuli.We found that the FSLs of neurons responding to characteristic frequency(CF)of sound stimulus were usually the shortest,regardless of sound intensity,and that spike rates of most neurons showed a variety of function according to sound frequency,especially at high intensities.These results strongly suggest that FSL of auditory IC neurons can represent sound frequency more precisely than spike rate.     

Towards genetic markers in animal populations as biomonitors for human-induced environmental change

Genetic markers provide potentially sensitive indicators of changes in environmental conditions because the genetic constitution of populations is normally altered well before populations become extinct. Genetic indicators in populations include overall genetic diversity, genetic changes in traits measured at the phenotypic level, and evolution at specific loci under selection. While overall genetic diversity has rarely been successfully related to environmental conditions, genetically based changes in traits have now been linked to the presence of toxins and both local and global temperature shifts. Candidate loci for monitoring stressors are emerging from information on how specific genes influence traits, and from screens of random loci across environmental gradients. Drosophila research suggests that chromosomal regions under recent intense selection can be identified from patterns of molecular variation and a high frequency of transposable element insertions. Allele frequency changes at candidate loci have been linked to pesticides, pollutants and climate change. Nevertheless, there are challenges in interpreting allele frequencies in populations, particularly when a large number of loci control a trait and when interactions between alleles influence trait expression. To meet these challenges, population samples should be collected for longitudinal studies, and experimental programmes should be undertaken to link variation at candidate genes to ecological processes.     

Invasiveness in plant communities with feedbacks

The detrimental effects of invasive plant species on ecosystems are well documented. While much research has focused on discovering ecological influences associated with invasiveness, it remains unclear how these influences interact, causing some introduced exotic species to become invasive threats. Here we develop a framework that incorporates the influences of propagule pressure, frequency independent growth rates, feedback relationships, resource competition and spatial scale of interactions. Our results show that these ecological influences interact in complex ways, resulting in expected outcomes ranging from inability to establish, to naturalization, to conditional invasion dependent on quantity and spatial distribution of propagules, to unconditional takeover. We propose a way to predict the likelihood of these four possible outcomes, for a species recently introduced into a given target community. Such information could enable conservation biologists to craft strategies and target remediation efforts more efficiently and effectively in order to help maintain biodiversity in ecological communities.     

Exemestane metabolites suppress growth of estrogen receptor-positive breast cancer cells by inducing apoptosis and autophagy: A comparative study with Exemestane

Around 60–80% of all breast tumors are estrogen receptor-positive. One of the several therapeutic approaches used for this type of cancers is the use of aromatase inhibitors. Exemestane is a third-generation steroidal aromatase inhibitor that undergoes a complex and extensive metabolism, being catalytically converted into chemically active metabolites. Recently, our group showed that the major exemestane metabolites, 17β-hydroxy-6-methylenandrosta-1,4-dien-3-one and 6-(hydroxymethyl)androsta-1,4,6-triene-3,17-dione, as well as, the intermediary metabolite 6β-Spirooxiranandrosta-1,4-diene-3,17-dione, are potent aromatase inhibitors in breast cancer cells. In this work, in order to better understand the biological mechanisms of exemestane in breast cancer and the effectiveness of its metabolites, it was investigated their effects in sensitive and acquired-resistant estrogen receptor-positive breast cancer cells. Our results indicate that metabolites induced, in sensitive breast cancer cells, cell cycle arrest and apoptosis via mitochondrial pathway, involving caspase-8 activation. Moreover, metabolites also induced autophagy as a promoter mechanism of apoptosis. In addition, it was demonstrated that metabolites can sensitize aromatase inhibitors-resistant cancer cells, by inducing apoptosis. Therefore, this study indicates that exemestane after metabolization originates active metabolites that suppress the growth of sensitive and resistant breast cancer cells. It was also concluded that, in both cell lines, the biological effects of metabolites are different from the ones of exemestane, which suggests that exemestane efficacy in breast cancer treatment may also be dependent on its metabolites.     

Sexual selection is ineffectual or inhibits the purging of deleterious mutations in Drosophila melanogaster

The effects of sexual selection on population mean fitness are unclear and a subject of debate. Recent models propose that, because reproductive success may be condition dependent, much of the genome may be a target of sexual selection. Under this scenario, mutations that reduce health, and thus nonsexual fitness, may also be deleterious with respect to reproductive success, meaning that sexual selection may contribute to the purging of deleterious alleles. We tested this hypothesis directly by subjecting replicate Drosophila melanogaster populations to two treatments that altered the opportunity for sexual selection and then tracked changes in the frequency of six separate deleterious alleles with recessive and visible phenotypic effects. While natural selection acted to decrease the frequency of all six mutations, the addition of sexual selection did not aid in the purging of any of them, and for three of them appears to have hampered it. Courtship and mating have harmful effects in this species and mate choice assays showed that males directed more courtship and mating behavior toward wild-type over mutant females, providing a likely explanation for sexual selection's cost. Whether this cost extends to other mutations (e.g., those lacking visible phenotypic effects) is an important topic for future research.