RESUMEN
For thousands of years humankind has sought to explore our oceans. Evidence of this early intrigue dates back to 130,000BCE, but the advent of remotely operated vehicles (ROVs) in the 1950s introduced technology that has had significant impact on ocean exploration. Today, ROVs play a critical role in both military (e.g. retrieving torpedoes and mines) and salvage operations (e.g. locating historic shipwrecks such as the RMS Titanic), and are crucial for oil and gas (O&G) exploration and operations. Industrial ROVs collect millions of observations of our oceans each year, fueling scientific discoveries. Herein, we assembled a group of international ROV experts from both academia and industry to reflect on these discoveries and, more importantly, to identify key questions relating to our oceans that can be supported using industry ROVs. From a long list, we narrowed down to the 10 most important questions in ocean science that we feel can be supported (whole or in part) by increasing access to industry ROVs, and collaborations with the companies that use them. The questions covered opportunity (e.g. what is the resource value of the oceans?) to the impacts of global change (e.g. which marine ecosystems are most sensitive to anthropogenic impact?). Looking ahead, we provide recommendations for how data collected by ROVs can be maximised by higher levels of collaboration between academia and industry, resulting in win-win outcomes. What is clear from this work is that the potential of industrial ROV technology in unravelling the mysteries of our oceans is only just beginning to be realised. This is particularly important as the oceans are subject to increasing impacts from global change and industrial exploitation. The coming decades will represent an important time for scientists to partner with industry that use ROVs in order to make the most of these 'eyes in the sea'.
RESUMEN
Due to human activities, marine and terrestrial ecosystems face a future where disturbances are predicted to occur at a frequency and severity unprecedented in the recent past. Of particular concern is the ability of systems to recover where multiple stressors act simultaneously. We examine this issue in the context of a coral reef ecosystem where increases in stressors, such as fisheries, benthic degradation, cyclones and coral bleaching, are occurring at global scales. By utilizing long-term (decadal) monitoring programs, we examined the combined effects of chronic (removal of sharks) and pulse (cyclones, bleaching) disturbances on the trophic structure of coral reef fishes at two isolated atoll systems off the coast of northwest Australia. We provide evidence consistent with the hypothesis that the loss of sharks can have an impact that propagates down the food chain, potentially contributing to mesopredator release and altering the numbers of primary consumers. Simultaneously, we show how the effects of bottom-up processes of bleaching and cyclones appear to propagate up the food chain through herbivores, planktivores and corallivores, but do not affect carnivores. Because their presence may promote the abundance of herbivores, the removal of sharks by fishing has implications for both natural and anthropogenic disturbances involving the loss of corals, as herbivores are critical to the progress and outcome of coral recovery.
Asunto(s)
Antozoos/fisiología , Arrecifes de Coral , Peces/fisiología , Tiburones/fisiología , Animales , Australia , Conservación de los Recursos Naturales , Humanos , Especificidad de la EspecieRESUMEN
Male infertility, a common barrier that prevents successful conception, is a reproductive difficulty affecting 15% of couples. Heritable forms of nonsyndromic male infertility can arise from single-gene defects as well as chromosomal abnormalities. Although no CATSPER gene has been identified as causative for human male infertility, male mice deficient for members of the CatSper gene family are infertile. In this study, we used routine semen analysis to identify two consanguineous Iranian families segregating autosomal-recessive male infertility. Autozygosity by descent was demonstrated in both families for a approximately 11 cM region on chromosome 11q13.1, flanked by markers D11S1765 and D11S4139. This region contains the human CATSPER1 gene. Denaturing high-performance liquid chromatography (DHPLC) and bidirectional sequence analysis of CATSPER1 in affected family members revealed two separate insertion mutations (c.539-540insT and c.948-949insATGGC) that are predicted to lead to frameshifts and premature stop codons (p.Lys180LysfsX8 and p.Asp317MetfsX18). CATSPER1 is one of four members of the sperm-specific CATSPER voltage-gated calcium channel family known to be essential for normal male fertility in mice. These results suggest that CATSPER1 is also essential for normal male fertility in humans.
Asunto(s)
Canales de Calcio/genética , Infertilidad Masculina/genética , Mutación , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Canales de Calcio/deficiencia , Mapeo Cromosómico , Cromosomas Humanos Par 11/genética , Consanguinidad , ADN/genética , Análisis Mutacional de ADN , Modelos Animales de Enfermedad , Femenino , Genes Recesivos , Humanos , Irán , Escala de Lod , Masculino , Ratones , Mutagénesis Insercional , LinajeRESUMEN
OBJECTIVE: To analyze the physical manifestations and genetic features of 2 families segregating X-linked deafness, which is most commonly reported to be caused by mutations of the POU domain gene POU3F4 at the DFN3 locus. DESIGN: Computed tomographic study of the temporal bone in probands from each family, followed by mutation screening and deletion mapping of POU3F4 in family members. SETTING: Two midwestern genetics clinics. PARTICIPANTS: Two families with X-linked deafness. MAIN OUTCOME MEASURES: Anomalies of the inner ear in the probands; results of gene mapping and severity and effects of hearing loss in the family members. RESULTS: In the first family, a large deletion was identified that includes POU3F4 and extends upstream approximately 530 kilobases; in the second family, a novel serine-to-leucine (S228L) amino acid mutation was identified in the POU-specific domain of POU3F4. Both the deletion and the missense mutation segregate with the clinical phenotype and are causally related to the deafness in these families. CONCLUSIONS: Deafness related to the POU3F4 gene is associated with dilation of the internal auditory canal and a spectrum of other temporal bone anomalies that range in severity from mild to severe dysplasia of the cochlea and semicircular canals. The consequence of these anomalies is a congenital mixed hearing loss, the sensorineural component of which progresses over time. Affected males can also present with vestibular dysfunction that is associated with delayed developmental motor milestones. Intrafamilial variability occurs.