Further evidence of linkage at 7p22 with familial hyperaldosteronism type II and exclusion of genetic defects in the RBAK coding regions

Once thought rare, primary aldosteronism (PAL) is now reported to be responsible for 5–10% of hypertension. Unlike familial hyperaldosteronism type I (FH-I), FH-II is not glucocorticoidremediable and not associated with the hybrid CYP11B1/CYP11B2 gene mutation. At least five times more common than FH-I, FH-II is clinically indistinguishable from apparently sporadic PAL, suggesting an even higher incidence. Studies performed in collaboration with C Stratakis (NIH, Bethesda) on our largest Australian family (eight affected members) demonstrated linkage at chromosome 7p22. Linkage at this region was also found in a South American family (DNA provided by MI New, Mount Sinai School of Medicine, New York) and in a second Australian family. The combined multipoint LOD score for these 3 families is 4.61 (q = 0) with markers D7S462 and D7S517, providing strong support for this locus harbouring mutations responsible for FH-II. A newly identified recombination event in our largest Australian family has narrowed the region of linkage by 1.8 Mb, permitting exclusion of approximately half the genes residing in the originally reported 5 Mb linked locus. Candidate genes that are involved in cell cycle control are of interest as adrenal hyperplasia and adrenal adenomas are common in FH-II patients. A novel candidate gene in this linked region produces the retinoblastoma-associated Kruppel-associated box protein (RBaK) which interacts with the retinoblastoma gene product to repress the expression of genes activated by members of the E2F family of transcription factors.

Isolation, characterization and discovery of new alleles of sHsp genes in durum wheat (Triticum durum Desf.)

Gli organismi vegetali mostrano una notevole capacità di adattamento alle condizioni di stress e lo studio delle componenti molecolari alla base dell'adattamento in colture cerealicole di interesse alimentare, come il frumento, è di particolare interesse per lo studio di varietà che consentano una buona produzione con basso input anche in condizioni ambientali non ottimali. L'esposizione delle colture cerealicole a stress termico durante determinate fasi del ciclo vitale influisce negativamente sulla resa e sulla qualità, a questo fine è necessario chiarire le basi genetiche e molecolari della termotolleranza per identificare geni e alleli vantaggiosi da impiegare in programmi di incrocio volti al miglioramento genetico. Numerosi studi dimostrano il coinvolgimento delle sHSP a localizzazione cloroplastica (in frumento sHSP26) nel meccanismo di acquisizione della termotolleranza e la loro interazione con diverse componenti del fotosistema II (PSII) che determinerebbe un’azione protettiva in condizioni di stress termico e altri tipi di stress. Lo scopo del progetto è quello di caratterizzare in frumento duro nuove varianti alleliche correlate alla tolleranza a stress termico mediate l'utilizzo del TILLING (Target Induced Local Lesion In Genome), un approccio di genetica inversa che prevede la mutagenesi e l'identificazione delle mutazioni indotte in siti di interesse. Durante la tesi sono state isolate e caratterizzate 3 sequenze geniche complete per smallHsp26 denominate TdHsp26-A1; TdHsp26-A2; TdHsp26-B1 e un putativo pseudogene denominato TdHsp26-A3. I geni isolati sono stati usati come target in analisi di TILLING in due popolazioni di frumento duro mutagenizzate con EMS (EtilMetanoSulfonato). Nel nostro studio sono stati impiegati due differenti approcci di TILLING: un approccio di TILLING classico mediante screening con High Resolution Melting (HRM) e un approccio innovativo che sfrutta un database di TILLING recentemente sviluppato. La popolazione di mutanti cv. Kronos è stata analizzata per la presenza di mutazioni in tutti e tre i geni individuati mediante ricerca online nel database di TILLING, il quale sfrutta la tecnica dell’exome capture sulla popolazione di TILLING seguito da sequenziamento ad alta processività. Attraverso questa tecnica sono state individuate, nella popolazione mutagenizzata di frumento duro cv. Kronos, 36 linee recanti mutazioni missenso. Contemporaneamente lo screening con HRM, effettuato su 960 genotipi della libreria di TILLING di frumento duro cv. Cham1 ha consentito di individuare mutazioni in una regione di 211bp di interesse funzionale del gene TdHsp26-B1, tra le quali 3 linee mutanti recanti mutazioni missenso in omozigosi. Alcune mutazioni missenso individuate sui due geni TdHsp26-A1 e TdHsp26-B1 sono state confermate in vivo nelle piante delle rispettive linee mutanti generando marcatori codominanti KASP (Kompetitive Allele Specific PCR) con cui è stato possibile verificare anche il grado di zigosità di tali mutazioni. Al fine di ridurre il numero di mutazioni non desiderate nelle linee risultate più interessanti, è stato eseguito il re-incrocio dei mutanti con i relativi parentali wild type ed inoltre sono stati generati alcuni doppi mutanti che consentiranno di comprendere meglio i meccanismi molecolari presieduti da questa classe genica. Gli individui F1 degli incroci sono stati poi genotipizzati con i medesimi marcatori KASP specifici per la mutazione di interesse per verificare la buona riuscita dell’incrocio. Questo approccio ha permesso di individuare ed implementare risorse genetiche utili ad intraprendere studi funzionali relativi al ruolo di smallHSP plastidiche implicate nella acquisizione di termotolleranza in frumento duro e di generare marcatori potenzialmente utili in futuri programmi di breeding.

Adaptive Signal Processing for Power Line Communications

This thesis represents a significant part of the research activity conducted during the PhD program in Information Technologies, supported by Selta S.p.A, Cadeo, Italy, focused on the analysis and design of a Power Line Communications (PLC) system. In recent times the PLC technologies have been considered for integration in Smart Grids architectures, as they are used to exploit the existing power line infrastructure for information transmission purposes on low, medium and high voltage lines. The characterization of a reliable PLC system is a current object of research as well as it is the design of modems for communications over the power lines. In this thesis, the focus is on the analysis of a full-duplex PLC modem for communication over high-voltage lines, and, in particular, on the design of the echo canceller device and innovative channel coding schemes.

Advanced receivers for next generation wireless communication systems

Despite extensive progress on the theoretical aspects of spectral efficient communication systems, hardware impairments, such as phase noise, are the key bottlenecks in next generation wireless communication systems. The presence of non-ideal oscillators at the transceiver introduces time varying phase noise and degrades the performance of the communication system. Significant research literature focuses on joint synchronization and decoding based on joint posterior distribution, which incorporate both the channel and code graph. These joint synchronization and decoding approaches operate on well designed sum-product algorithms, which involves calculating probabilistic messages iteratively passed between the channel statistical information and decoding information. Channel statistical information, generally entails a high computational complexity because its probabilistic model may involve continuous random variables. The detailed knowledge about the channel statistics for these algorithms make them an inadequate choice for real world applications due to power and computational limitations. In this thesis, novel phase estimation strategies are proposed, in which soft decision-directed iterative receivers for a separate A Posteriori Probability (APP)-based synchronization and decoding are proposed. These algorithms do not require any a priori statistical characterization of the phase noise process. The proposed approach relies on a Maximum A Posteriori (MAP)-based algorithm to perform phase noise estimation and does not depend on the considered modulation/coding scheme as it only exploits the APPs of the transmitted symbols. Different variants of APP-based phase estimation are considered. The proposed algorithm has significantly lower computational complexity with respect to joint synchronization/decoding approaches at the cost of slight performance degradation. With the aim to improve the robustness of the iterative receiver, we derive a new system model for an oversampled (more than one sample per symbol interval) phase noise channel. We extend the separate APP-based synchronization and decoding algorithm to a multi-sample receiver, which exploits the received information from the channel by exchanging the information in an iterative fashion to achieve robust convergence. Two algorithms based on sliding block-wise processing with soft ISI cancellation and detection are proposed, based on the use of reliable information from the channel decoder. Dually polarized systems provide a cost-and spatial-effective solution to increase spectral efficiency and are competitive candidates for next generation wireless communication systems. A novel soft decision-directed iterative receiver, for separate APP-based synchronization and decoding, is proposed. This algorithm relies on an Minimum Mean Square Error (MMSE)-based cancellation of the cross polarization interference (XPI) followed by phase estimation on the polarization of interest. This iterative receiver structure is motivated from Master/Slave Phase Estimation (M/S-PE), where M-PE corresponds to the polarization of interest. The operational principle of a M/S-PE block is to improve the phase tracking performance of both polarization branches: more precisely, the M-PE block tracks the co-polar phase and the S-PE block reduces the residual phase error on the cross-polar branch. Two variants of MMSE-based phase estimation are considered; BW and PLP.

Statistical mechanics analysis of LDPC coding in MIMO Gaussian channels

Using analytical methods of statistical mechanics, we analyse the typical behaviour of a multiple-input multiple-output (MIMO) Gaussian channel with binary inputs under low-density parity-check (LDPC) network coding and joint decoding. The saddle point equations for the replica symmetric solution are found in particular realizations of this channel, including a small and large number of transmitters and receivers. In particular, we examine the cases of a single transmitter, a single receiver and symmetric and asymmetric interference. Both dynamical and thermodynamical transitions from the ferromagnetic solution of perfect decoding to a non-ferromagnetic solution are identified for the cases considered, marking the practical and theoretical limits of the system under the current coding scheme. Numerical results are provided, showing the typical level of improvement/deterioration achieved with respect to the single transmitter/receiver result, for the various cases. © 2007 IOP Publishing Ltd.

Retrieving designs from a sketch using an automated GT coding and classification system

While the retrieval of existing designs to prevent unnecessary duplication of parts is a recognised strategy in the control of design costs the available techniques to achieve this, even in product data management systems, are limited in performance or require large resources. A novel system has been developed based on a new version of an existing coding system (CAMAC) that allows automatic coding of engineering drawings and their subsequent retrieval using a drawing of the desired component as the input. The ability to find designs using a detail drawing rather than textual descriptions is a significant achievement in itself. Previous testing of the system has demonstrated this capability but if a means could be found to find parts from a simple sketch then its practical application would be much more effective. This paper describes the development and testing of such a search capability using a database of over 3000 engineering components.