Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus

Context: Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with PHP-Ib suffer of defects in the methylation pattern of the complex GNAS locus. PHP-Ib can be either sporadic or inherited in an autosomal dominant pattern. Whereas familial PHP-Ib is well characterized at the molecular level, the genetic cause of sporadic PHP-Ib cases remains elusive, although some molecular mechanisms have been associated with this subtype.Objective: The aim of the study was to investigate the molecular and imprinting defects in the GNAS locus in two unrelated patients with PHP-Ib.Design: We have analyzed the GNAS locus by direct sequencing, Methylation-Specific Multiplex Ligation-dependent Probe Amplification, microsatellites, Quantitative Multiplex PCR of Short Fluorescent fragments and array-Comparative Genomic Hybridization studies in order to characterize two unrelated families with clinical features of PHP-Ib.Results: We identified two duplications in the GNAS region in two patients with PHP-Ib: one of them, comprising ~320 kb, occurred ‘de novo’ in the patient, whereas the other one, of ~179 kb in length, was inherited from the maternal allele. In both cases, no other known genetic cause was observed.Conclusion: In this article, we describe the to-our-knowledge biggest duplications reported so far in the GNAS region. Both are associated to PHP-Ib, one of them occurring ‘de novo’ and the other one being maternally inherited.This work was partially supported by Grants IT-795-13 and IT-472-07 from the Basque Department of Education (http://www.hezkuntza.ejgv.euskadi.net/r4​3-2591/es). TV is supported by the FPI Program of the University of Basque Country (UPV-EHU, http://www.ehu.es/p200-home/es)

Sap flow, leaf-level gas exchange and spectral responses to drought in Pinus sylvestris, Pinus pinea and Pinus halepensis

In a climate change scenario, Mediterranean forest species such as pines may be endangered by rising temperatures and reduced precipitation, thus calling for studies on the transpiration and water balance in pines. In this paper, the response of young plants of Pinus sylvestris L., Pinus pinea L. and Pinus halepensis Mill. to different irrigation treatments has been studied. Significant differences were found in water potential, sap flow, leaf-level gas exchange and spectral variables. P. sylvestris had higher pre-dawn and midday water potentials, sap flow rates and leaf-level gas exchange rates compared to the other two species in well-watered conditions. Vapor pressure gradient correlated with stomatal conductance, net assimilation and transpiration, but the association between stomatal conductance and sap flow was weak. The environmental variables more strongly associated with sap flow were solar radiation and reference evapo-transpiration, especially in the well-watered plants, but those associations were weaker in the stressed plants. All three pine species showed the isohydric, drought-avoiding strategy common in the genus Pinus, maintaining relatively high water potentials in dry conditions. Nevertheless, P. halepensis showed a water-saving strategy, with a stomatal closure behavior under drought. Stomatal regulation was less strict in P. sylvestris, closer to a water-spending pattern, while P. pinea showed an intermediate behavior. Significant differences were recorded among species in spectral reflectance in the visible and infra-red regions. Photochemical Reflectance Index, Normalized Difference Vegetation Index and combinations of other ratios permitted the discrimination among the three pine species. These spectral variables showed association with sap flow rate, water potential and leaf-level gas exchange variables. Both cluster analysis and k-means classification discriminated Scots pine and Aleppo pine in two different groups. On the other hand, Stone pine showed differences in spectral behavior depending on the hydric status of the plants. Well-watered Stone pine plants had the same spectral behavior as Scots pine, while the plants subjected to drought stress were closer to Aleppo pine plants in spectral response. These findings may help to quantify the impacts of early and mid-summer water deficit on Mediterranean pines in future climate regimes

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