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Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with del(17)(p11.2p11.2). The phenotype is variable even in patients with deletions of the same size. RAI1 has been recently suggested as a major gene for majority of the SMS phenotypes, but its role in the full spectrum of the phenotype remains unclear. Df(11)17/+ mice contain a heterozygous deletion in the mouse region syntenic to the SMS common deletion, and exhibit craniofacial abnormalities, seizures and marked obesity, partially reproducing the SMS phenotype. To further study the genetic basis for the phenotype, we constructed three lines of mice with smaller deletions [Df(11)17-1, Df(11)17-2 and Df(11)17-3] using retrovirus-mediated chromosome engineering to create nested deletions. Both craniofacial abnormalities and obesity have been observed, but the penetrance of the craniofacial phenotype was markedly reduced when compared with Df(11)17/+ mice. Overt seizures were not observed. Phenotypic variation has been observed in mice with the same deletion size in the same and in different genetic backgrounds, which may reflect the variation documented in the patients. These results indicate that the smaller deletions contain the gene(s), most likely Rai1, causing craniofacial abnormalities and obesity. However, genes or regulatory elements in the larger deletion, which are not located in the smaller deletions, as well as genes located elsewhere, also influence penetrance and expressivity of the phenotype. Our mouse models refined the genomic region important for a portion of the SMS phenotype and provided a basis for further molecular analysis of genes associated with SMS.

a b s t r a c tThe climate science community of professionals in Hawai'i and the U.S.-Affiliated Pacific Islands is a vast interdisciplinary and international group, with the potential for spatial and sectoral barriers to communication and collaboration. This study sought to (1) assess the structural nature and expanse of climate-based communication between professionals across sectors in the Pacific Islands region; (2) identify key regional hubs and isolated groups both sectorally and spatially; and, (3) create a set of placebased tools that would increase and facilitate the connectedness of climate change resources (human, research, and adaptation). Social network analysis was chosen as a versatile method to assess the network and create free tools to facilitate future collaborations among stakeholders across spatial and disciplinary boundaries. Given the complexities of the large network, an innovative approach was used for data collection, blending a nominalist (researcher-created list of names) and realist (participant-created list in open fields) survey construction. Participants indicated frequency of communication to capture both active coworkers and periodic collaborators, consistent with the realities of the network. Survey participation was not confidential and was used to create region-wide and sub-regional maps that can be used by stakeholders to increase connectedness, in line with use-inspired science. Study results reveal a simultaneously diffuse and strongly connected network, with no isolated spatial or sectoral groups. The most central network members are those with a strong networking component to their professions. Gaps in communication were also revealed. Future research should evaluate the use and long term benefits of the created networking tools, and the specific nature of local and international communications within each sub-network. © 2015 Colegio Oficial de Psicólogos de Madrid. Published by Elsevier España, S.L.U. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). Uso del análisis de redes sociales para evaluar las comunicaciones y desarrollar herramientas de networking entre los profesionales del cambio climático en la región de las Islas del PacíficoPalabras clave: Ciencia del clima Colaboración Redes sociales Islas del Pacífico Red

No abstract

Drought is a prominent feature of Hawaiʻi’s climate. However, it has been over 30 years since the last comprehensive meteorological drought analysis, and recent drying trends have emphasized the need to better understand drought dynamics and multi-sector effects in Hawaiʻi. Here, we provide a comprehensive synthesis of past drought effects in Hawaiʻi that we integrate with geospatial analysis of drought characteristics using a newly developed 100-year (1920–2019) gridded Standardized Precipitation Index (SPI) dataset. The synthesis examines past droughts classified into five categories: Meteorological, agricultural, hydrological, ecological, and socioeconomic drought. Results show that drought duration and magnitude have increased significantly, consistent with trends found in other Pacific Islands. We found that most droughts were associated with El Niño events, and the two worst droughts of the past century were multi-year events occurring in 1998–2002 and 2007–2014. The former event was most severe on the islands of O’ahu and Kaua’i while the latter event was most severe on Hawaiʻi Island. Within islands, we found different spatial patterns depending on leeward versus windward contrasts. Droughts have resulted in over $80 million in agricultural relief since 1996 and have increased wildfire risk, especially during El Niño years. In addition to providing the historical context needed to better understand future drought projections and to develop effective policies and management strategies to protect natural, cultural, hydrological, and agricultural resources, this work provides a framework for conducting drought analyses in other tropical island systems, especially those with a complex topography and strong climatic gradients.