Identification of a novel 15.5 kb <Emphasis Type="Italic">SHOX</Emphasis> deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin

Haploinsufficiency of the short stature homeobox contaning SHOX gene has been shown to result in a spectrum of phenotypes ranging from Leri–Weill dyschondrosteosis (LWD) at the more severe end to SHOX-related short stature at the milder end of the spectrum. Most alterations are whole gene deletions, point mutations within the coding region, or microdeletions in its flanking sequences. Here, we present the clinical and molecular data as well as the potential molecular mechanism underlying a novel microdeletion, causing a variable SHOX-related haploinsufficiency disorder in a three-generation family. The phenotype resembles that of LWD in females, in males, however, the phenotypic expression is milder. The 15523-bp SHOX intragenic deletion, encompassing exons 3–6, was initially detected by array-CGH, followed by MLPA analysis. Sequencing of the breakpoints indicated an Alu recombination-mediated deletion (ARMD) as the potential causative mechanism.     

Habitat preferences of Eurasian Bitterns Botaurus stellaris booming in ricefields: implications for management

The Eurasian Bittern Botaurus stellaris suffered declines in western Europe during the 20th century, partly because of wetland reclamation. The species has been traditionally considered a reedbed specialist but recent studies identified a greater ecological plasticity than previously believed. We investigated habitat associations of a Eurasian Bittern population that has started to breed in the ricefields of northwest Italy since the early 1990s. Booming Bitterns had a higher probability of occurring in ricefields with taller rice plants, more vegetated field banks, more weeds, a larger surface and closer to remaining natural wetlands. The positive effect of field bank vegetation height on the probability that a ricefield hosted a booming Bittern declined late in the season, in contrast to the effects of weeds and ricefield area, which were stronger later in the season. A decreasing importance of vegetation on field banks to booming Bitterns may be a consequence of seasonal changes in habitat structure through the Bittern’s breeding period. The degree of flooding did not affect the probability of occurrence of booming Bitterns, probably because most ricefields were homogeneously flooded during the peak breeding season (June–July). Our findings have important implications for the management of Bittern populations breeding in the ricefields of northwest Italy. We propose simple conservation actions that may favour the occurrence of booming Bitterns and help the species spread in this novel habitat.     

Evidence of digenic inheritance in autoinflammation-associated genes

Familial Mediterranean fever (FMF) has traditionally been considered as a monogenic autosomal recessive disorder caused by mutations in the MEFV gene with highest incidence among Mediterranean populations. In a considerable number of patients with typical FMF, only one MEFV mutation was identified and the possibility that more than one autoinflammatory gene may be responsible for their disease was investigated. In the present study, an extensive search for possible mutations in three hereditary recurrent fever (HRF) genes was performed in 128 MEFV heterozygous Greek–Cypriots clinically diagnosed based on their phenotype with FMF-like disease from a previous study. Sequence analysis was performed for MVK, TNFRSF1A and NLRP3 genes which is also known to cause HRFs. In total, three patients were identified with heterozygous mutations and a second mutation in an autoinflammatory gene. Two patients carried a MEFV mutation and a NLRP3 mutation, and an additional third carried a MEFV mutation and a TNFRSF1A mutation. Patient 1 carried MEFV p.[Val726Ala] (NM_000243.2:c.2177T >C) and NLRP3 p.[Val198Met] (NM_001243133.1:c.592G >A) variants and patient 2 carried MEFV p.[Glu148Gln] (NM_000243.2:c.442G >C) variant which is of uncertain significance and NLRP3 p.[Arg176Trp] (NM_001243133.1:c.526C >T). Lastly, patient 3 was identified to carry MEFV p.[Met694Val] (NM_000243.2:c.2080A >G) and TNFRSF1A p.[Arg121Gln] (NM_001065.3:c.362G >A) variants. The results from this study indicate that screening of genes known to cause HRFs in patients already identified with a single MEFV mutation, can reveal quite rare but potentially causative mutational combinations at different loci. Such interaction provide further evidence for possible locus–locus interactions and phenotypes resulting from digenic inheritance.     

Spring phenology in boreal Eurasia over a nearly century time scale

It has been widely reported that tree leaves have tended to appear earlier in many regions of the northern hemisphere in the last few decades, reflecting climate warming. Satellite observations revealed an 8-day advance in leaf appearance date between 1982 and 1991 in northern latitudes. In situ observations show that leaf appearance dates in Europe have advanced by an average of 6.3 days from 1959 to 1996. Modelling of leaf appearance on the basis of temperature also shows a marked advance in temperate and boreal regions from 1955 to 2002. However, before 1955, reported studies of phenological variations are restricted to local scale. Modelling, ground observations and satellite observations are here combined to analyse phenological variations in Eurasian taiga over nearly a century. The trend observed by remote sensing consists mainly in a shift at the end of the 1980s, reflecting a shift in winter and spring temperature. In western boreal Eurasia, a trend to earlier leaf appearance is evident since the mid-1930s, although it is discontinuous. In contrast, the strong advance in leaf appearance detected over Central Siberia using satellite data in 1982–1991 is strengthened by late springs in 1983–1984; moreover, in this region the green-up timing has displayed successive trends with opposite signs since 1920. Thus, such strong trend is not unusual if considered locally. However, the recent advance is unique in simultaneously affecting most of the Eurasian taiga, the leaf appearance dates after 1990 being the earliest in nearly a century in most of the area.