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1.
Sensors (Basel) ; 24(13)2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-39000944

RESUMEN

The ANTHEM (Advanced Technologies for Human-centered Medicine) Radio-Frequency Quadrupole (RFQ) will employ eight coaxial power couplers, which will be magnetically coupled to the device through a loop antenna. The coupler design can support up to 140 kW in continuous wave operation. This paper presents the design of the cavity used for high-power testing, with the primary objectives of both optimizing the coupling between the couplers and ensuring operations at the designated operating frequency. Furthermore, the paper encompasses thermal and structural assessments conducted through numerical simulations.

2.
Genome Biol Evol ; 16(5)2024 05 02.
Artículo en Inglés | MEDLINE | ID: mdl-38670119

RESUMEN

Once widespread in their homelands, the Anatolian mouflon (Ovis gmelini anatolica) and the Cyprian mouflon (Ovis gmelini ophion) were driven to near extinction during the 20th century and are currently listed as endangered populations by the International Union for Conservation of Nature. While the exact origins of these lineages remain unclear, they have been suggested to be close relatives of domestic sheep or remnants of proto-domestic sheep. Here, we study whole genome sequences of n = 5 Anatolian mouflons and n = 10 Cyprian mouflons in terms of population history and diversity, comparing them with eight other extant sheep lineages. We find reciprocal genetic affinity between Anatolian and Cyprian mouflons and domestic sheep, higher than all other studied wild sheep genomes, including the Iranian mouflon (O. gmelini). Studying diversity indices, we detect a considerable load of short runs of homozygosity blocks (<2 Mb) in both Anatolian and Cyprian mouflons, reflecting small effective population size (Ne). Meanwhile, Ne and mutation load estimates are lower in Cyprian compared with Anatolian mouflons, suggesting the purging of recessive deleterious variants in Cyprian sheep under a small long-term Ne, possibly attributable to founder effects, island isolation, introgression from domestic lineages, or differences in their bottleneck dynamics. Expanding our analyses to worldwide wild and feral Ovis genomes, we observe varying viability metrics among different lineages and a limited consistency between viability metrics and International Union for Conservation of Nature conservation status. Factors such as recent inbreeding, introgression, and unique population dynamics may have contributed to the observed disparities.


Asunto(s)
Especies en Peligro de Extinción , Oveja Doméstica , Animales , Ovinos/genética , Oveja Doméstica/genética , Genoma , Variación Genética
3.
Genet Sel Evol ; 56(1): 1, 2024 Jan 02.
Artículo en Inglés | MEDLINE | ID: mdl-38166592

RESUMEN

The domestication of animals started around 12,000 years ago in the Near East region. This "endless process" is characterized by the gradual accumulation of changes that progressively marked the genetic, phenotypic and physiological differences between wild and domesticated species. The main distinctive phenotypic characteristics are not all directly attributable to the human-mediated selection of more productive traits. In the last decades, two main hypotheses have been proposed to clarify the emergence of such a set of phenotypic traits across a variety of domestic species. The first hypothesis relates the phenotype of the domesticated species to an altered thyroid hormone-based signaling, whereas the second one relates it to changes in the neural crest cells induced by selection of animals for tameness. These two hypotheses are not necessarily mutually exclusive since they may have contributed differently to the process over time and space. The adaptation model induced by domestication can be adopted to clarify some aspects (that are still controversial and debated) of the long-term evolutionary process leading from the wild Neolithic mouflon to the current domestic sheep. Indeed, sheep are among the earliest animals to have been domesticated by humans, around 12,000 years ago, and since then, they have represented a crucial resource in human history. The aim of this review is to shed light on the molecular mechanisms and the specific genomic variants that underlie the phenotypic variability between sheep and mouflon. In this regard, we carried out a critical review of the most recent studies on the molecular mechanisms that are most accredited to be responsible for coat color and phenotype, tail size and presence of horns. We also highlight that, in such a complicate context, sheep/mouflon hybrids represent a powerful and innovative model for studying the mechanism by which the phenotypic traits related to the phenotypic responses to domestication are inherited. Knowledge of these mechanisms could have a significant impact on the selection of more productive breeds. In fact, as in a journey back in time of animal domestication, the genetic traits of today's domestic species are being progressively and deliberately shaped according to human needs, in a direction opposite to that followed during domestication.


Asunto(s)
Evolución Biológica , Oveja Doméstica , Animales , Ovinos/genética , Humanos , Oveja Doméstica/genética , Domesticación , Fenotipo , Cruzamiento , Animales Domésticos/genética
4.
Animals (Basel) ; 13(13)2023 Jun 29.
Artículo en Inglés | MEDLINE | ID: mdl-37443940

RESUMEN

Mediterranean Shag (Gulosus aristotelis desmarestii) is a seabird endemic to the Mediterranean and Black Seas, recently included in the IUCN list of threatened Species. Most of the reproductive colonies are hosted in Sardinia and surrounding islets. Bycatch in fishing nets is one of the most significant threats for this population. Our work aimed to assess alterations in the sex ratio caused by bycatch and to study the adaptive response of the population to a skewed adult sex ratio. The sex ratio of Mediterranean Shags found drowned in the gillnets near the colonies and that of the nestlings of the Corcelli (northeast Sardinia) colony was determined using the sex-linked polymorphism of the gene Chromobox-Helicase-DNA-binding 1. The data of the shags found drowned in gillnets evidenced a high mortality rate (83.3%; p < 0.001) and a larger size of males (35% heavier than females, p < 0.05) compared to females, supporting the theory that heavier individuals are able to forage at great depths. With 64.8% of the nestlings being male, the sex ratio of nestlings was statistically different from parity (p < 0.05). Furthermore, it was related to the brood size. In one- and two-chick broods, 73% and 70% of nestlings, respectively, were males, while in three-chick broods, only 33% were males. Our data identify the higher rate of male shags drowned in gillnets as a factor causing an alteration of the sex ratio in the Mediterranean Shag population. According to the Sex Allocation Theory, an adaptive adjustment of sex made by adult females restores the Mendelian sex ratio in the population.

5.
Front Oncol ; 12: 929949, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36226070

RESUMEN

Morphological changes that may arise through a treatment course are probably one of the most significant sources of range uncertainty in proton therapy. Non-invasive in-vivo treatment monitoring is useful to increase treatment quality. The INSIDE in-beam Positron Emission Tomography (PET) scanner performs in-vivo range monitoring in proton and carbon therapy treatments at the National Center of Oncological Hadrontherapy (CNAO). It is currently in a clinical trial (ID: NCT03662373) and has acquired in-beam PET data during the treatment of various patients. In this work we analyze the in-beam PET (IB-PET) data of eight patients treated with proton therapy at CNAO. The goal of the analysis is twofold. First, we assess the level of experimental fluctuations in inter-fractional range differences (sensitivity) of the INSIDE PET system by studying patients without morphological changes. Second, we use the obtained results to see whether we can observe anomalously large range variations in patients where morphological changes have occurred. The sensitivity of the INSIDE IB-PET scanner was quantified as the standard deviation of the range difference distributions observed for six patients that did not show morphological changes. Inter-fractional range variations with respect to a reference distribution were estimated using the Most-Likely-Shift (MLS) method. To establish the efficacy of this method, we made a comparison with the Beam's Eye View (BEV) method. For patients showing no morphological changes in the control CT the average range variation standard deviation was found to be 2.5 mm with the MLS method and 2.3 mm with the BEV method. On the other hand, for patients where some small anatomical changes occurred, we found larger standard deviation values. In these patients we evaluated where anomalous range differences were found and compared them with the CT. We found that the identified regions were mostly in agreement with the morphological changes seen in the CT scan.

6.
Med Phys ; 49(1): 23-40, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34813083

RESUMEN

PURPOSE: In-beam positron emission tomography (PET) is one of the modalities that can be used for in vivo noninvasive treatment monitoring in proton therapy. Although PET monitoring has been frequently applied for this purpose, there is still no straightforward method to translate the information obtained from the PET images into easy-to-interpret information for clinical personnel. The purpose of this work is to propose a statistical method for analyzing in-beam PET monitoring images that can be used to locate, quantify, and visualize regions with possible morphological changes occurring over the course of treatment. METHODS: We selected a patient treated for squamous cell carcinoma (SCC) with proton therapy, to perform multiple Monte Carlo (MC) simulations of the expected PET signal at the start of treatment, and to study how the PET signal may change along the treatment course due to morphological changes. We performed voxel-wise two-tailed statistical tests of the simulated PET images, resembling the voxel-based morphometry (VBM) method commonly used in neuroimaging data analysis, to locate regions with significant morphological changes and to quantify the change. RESULTS: The VBM resembling method has been successfully applied to the simulated in-beam PET images, despite the fact that such images suffer from image artifacts and limited statistics. Three dimensional probability maps were obtained, that allowed to identify interfractional morphological changes and to visualize them superimposed on the computed tomography (CT) scan. In particular, the characteristic color patterns resulting from the two-tailed statistical tests lend themselves to trigger alarms in case of morphological changes along the course of treatment. CONCLUSIONS: The statistical method presented in this work is a promising method to apply to PET monitoring data to reveal interfractional morphological changes in patients, occurring over the course of treatment. Based on simulated in-beam PET treatment monitoring images, we showed that with our method it was possible to correctly identify the regions that changed. Moreover we could quantify the changes, and visualize them superimposed on the CT scan. The proposed method can possibly help clinical personnel in the replanning procedure in adaptive proton therapy treatments.


Asunto(s)
Terapia de Protones , Humanos , Método de Montecarlo , Tomografía de Emisión de Positrones , Tomografía Computarizada por Rayos X
7.
Life (Basel) ; 11(10)2021 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-34685409

RESUMEN

Human activities are having increasingly devastating effects on the health of marine and terrestrial ecosystems. Studying the adaptive responses of animal species to changes in their habitat can be useful in mitigating this impact. Vultures represent one of the most virtuous examples of adaptation to human-induced environmental changes. Once dependent on wild ungulate populations, these birds have adapted to the epochal change resulting from the birth of agriculture and livestock domestication, maintaining their essential role as ecological scavengers. In this review, we retrace the main splitting events characterising the vultures' evolution, with particular emphasis on the Eurasian griffon Gyps fulvus. We summarise the main ecological and behavioural traits of this species, highlighting its vulnerability to elements introduced into the habitat by humans. We collected the genetic information available to date, underlining their importance for improving the management of this species, as an essential tool to support restocking practices and to protect the genetic integrity of G. fulvus. Finally, we examine the difficulties in implementing a coordination system that allows genetic information to be effectively transferred into management programs. Until a linking network is established between scientific research and management practices, the risk of losing important wildlife resources remains high.

8.
Sci Rep ; 11(1): 14729, 2021 07 19.
Artículo en Inglés | MEDLINE | ID: mdl-34282202

RESUMEN

Population genetic studies provide accurate information on population structure, connectivity, and hybridization. These are key elements to identify units for conservation and define wildlife management strategies aimed to maintain and restore biodiversity. The Mediterranean island of Sardinia hosts one of the last autochthonous mouflon populations, descending from the wild Neolithic ancestor. The first mouflon arrived in Sardinia ~ 7000 years ago and thrived across the island until the twentieth century, when anthropogenic factors led to population fragmentation. We analysed the three main allopatric Sardinian mouflon sub-populations, namely: the native sub-populations of Montes Forest and Mount Tonneri, and the reintroduced sub-population of Mount Lerno. We investigated the spatial genetic structure of the Sardinian mouflon based on the parallel analysis of 14 highly polymorphic microsatellite loci and mitochondrial D-loop sequences. The Montes Forest sub-population was found to harbour the ancestral haplotype in the phylogeny of European mouflon. We detected high levels of relatedness in all the sub-populations and a mitochondrial signature of hybridization between the Mount Lerno sub-population and domestic sheep. Our findings provide useful insights to protect such an invaluable genetic heritage from the risk of genetic depletion by promoting controlled inter-population exchange and drawing informed repopulation plans sourcing from genetically pure mouflon stocks.


Asunto(s)
Conservación de los Recursos Naturales , Oveja Doméstica/genética , Animales , Animales Salvajes , Conservación de los Recursos Naturales/métodos , ADN Mitocondrial/análisis , ADN Mitocondrial/genética , Demografía , Europa (Continente)/epidemiología , Variación Genética , Haplotipos , Italia/epidemiología , Repeticiones de Microsatélite/genética , Filogenia , Vigilancia de la Población , Ovinos/clasificación , Ovinos/genética , Oveja Doméstica/clasificación
9.
Life (Basel) ; 10(8)2020 Aug 05.
Artículo en Inglés | MEDLINE | ID: mdl-32764388

RESUMEN

Invasive species are the primary driver of island taxa extinctions and, among them, those belonging to the genus Rattus are considered as the most damaging. The presence of black rat (Rattus rattus) on Cyprus has long been established, while that of brown rat (Rattus norvegicus) is dubious. This study is the first to provide molecular and morphological data to document the occurrence of R. norvegicus in the island of Cyprus. A total of 223 black rats and 14 brown rats were collected. Each sample was first taxonomically attributed on the basis of body measurements and cranial observations. Four of the specimens identified as R. norvegicus and one identified as R. rattus were subjected to molecular characterization in order to corroborate species identification. The analyses of the mitochondrial control region were consistent with morphological data, supporting the taxonomic identification of the samples. At least two maternal molecular lineages for R. norvegicus were found in Cyprus. The small number of brown rats collected in the island, as well as the large number of samples of black rats retrieved in the past years might be an indication that the distribution of R. norvegicus is still limited into three out of the six districts of Cyprus.

10.
Biomed Res Int ; 2019: 2073919, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31886178

RESUMEN

The islands of Sardinia, Crete, and Cyprus are hosting the last native insular griffon populations in the Mediterranean basin. Their states have been evaluated from "vulnerable" to "critically endangered". The sequence analysis of molecular markers, particularly the mtDNA D-loop region, provides useful information in studying the evolution of closely related taxa and the conservation of endangered species. Therefore, a study of D-loop region sequence was carried out to estimate the genetic diversity and phylogenetic relationship within and among these three populations. Among 84 griffon specimens (44 Sardinian, 33 Cretan, and 7 Cypriot), we detected four haplotypes including a novel haplotype (HPT-D) that was exclusively found in the Cretan population with a frequency of 6.1%. When considered as a unique population, haplotype diversity (Hd) and nucleotide diversity (π) were high at 0.474 and 0.00176, respectively. A similar level of Hd and π was found in Sardinian and Cretan populations, both showing three haplotypes. The different haplotype frequencies and exclusivity detected were in accordance with the limited matrilineal gene flow (FST = 0.07097), probably related to the species reluctance to fly over sea masses. The genetic variability we observe today would therefore be the result of an evolutionary process strongly influenced by isolation leading to the appearance of island variants which deserve to be protected. Furthermore, since nesting sites and food availability are essential elements for colony settlement, we may infer that the island's colonization began when the first domestic animals were transferred by humans during the Neolithic. In conclusion, our research presents a first contribution to the genetic characterization of the griffon vulture populations in the Mediterranean islands of Sardinia, Crete and Cyprus and lays the foundation for conservation and restocking programs.


Asunto(s)
Aves/genética , Conservación de los Recursos Naturales , Variación Genética/genética , Mitocondrias/genética , Animales , ADN Mitocondrial/genética , Especies en Peligro de Extinción , Genética de Población , Haplotipos/genética , Humanos , Filogenia
11.
PeerJ ; 7: e7895, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31660272

RESUMEN

BACKGROUND: European mouflon (Ovis orientalis musimon) has been reintroduced in mainland Europe since the 18th-century sourcing from the Sardinian and Corsican autochthonous mouflon populations. The European mouflon is currently considered the feral descendent of the Asian mouflon (O. orientalis), and the result of first wave of sheep domestication occurred 11,000 years ago in the Fertile Crescent, and brought to Corsica and Sardinia ca. 6,000 years ago, where they still live as autochthonous populations. However, this phylogeny is based on mitogenome sequences of European mouflon individuals exclusively. METHODS: We sequenced the first complete mtDNA of the long-time isolated Sardinian mouflon and compared it with several ovine homologous sequences, including mouflon from mainland Europe and samples representative of the five known mitochondrial domestic sheep haplogroups. We applied Bayesian inference, Maximum Likelihood and Integer Neighbour-Joining network methods and provided a robust, fully-resolved phylogeny with strong statistical support for all nodes. RESULTS: We identified an early split (110,000 years ago) of the Sardinian mouflon haplotype from both sheep and mainland European mouflon belonging to haplogroup B, the latter two sharing a more recent common ancestor (80,000 years ago). Further, the Sardinian mouflon sequence we generated had the largest genetic distance from domestic sheep haplogroups (0.0136 ± 0.004) among mouflon species. Our results suggest the Sardinian mouflon haplotype as the most ancestral in the HPG-B lineage, hence partially redrawing the known phylogeny of the genus Ovis.

12.
J Morphol ; 279(12): 1753-1763, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30397929

RESUMEN

Flight is an energetically costly form of transport imparting biomechanical stress that acts upon the wing bones. Previous studies have suggested that the cross-sectional and microstructural features of wing bones may be adapted to resist biomechanical loads. During flight, however, each wing bone potentially experiences a unique loading regime. To assess possible differences among wing bones, we analyzed the microstructural features of the humerus, radius, ulna, and carpometacarpus (CMC) in eight griffon vultures (Gyps fulvus). Vascular canal orientation was evaluated in the diaphysis of the wing bones. Laminarity index (LI) was significantly different in the humerus versus CMC and ulna versus CMC. Results showed a lower proportion of circular vascular canals, due to resistance to torsional loads, in CMC than in humerus and ulna. The midshaft cross-section revealed an elliptical shape in the CMC compared to the circular shape observed in the other wing bones, with a maximum second moment of inertia (Imax ) orientation which suggests a capacity to withstand bending loads in a dorsoventral direction. The volumetric bone mineral density in the diaphysis was statistically different in CMC compared to the other bones analyzed. Its lower mineral density may reflect an adaptation to a different type and load of stresses in CMC compared to the proximal wing bones. No significant difference was found in the relative cortical area (CA/TA) among the four elements, while the polar moment of area J (Length-standardized) revealed a higher resistance to torsional load in the humerus than in the other bones. Our results would seem to indicate that griffon wing bones are structured as an adaptation, represented by two segments that respond to force in two ways: the proximal segment is specially adapted to resist torsional loads, whereas the distal one is adapted to resist bending loads.


Asunto(s)
Huesos/anatomía & histología , Falconiformes/anatomía & histología , Falconiformes/fisiología , Vuelo Animal/fisiología , Alas de Animales/anatomía & histología , Adaptación Fisiológica , Animales , Densidad Ósea/fisiología , Huesos/fisiología , Estudios Transversales , Procesamiento de Imagen Asistido por Computador
13.
Theriogenology ; 115: 16-22, 2018 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-29702366

RESUMEN

The purpose of this study was to investigate the effects of ram melatonin treatment on the sperm quality and metabolite composition of the seminal plasma in the non-breeding season. Four mature rams were treated with 54 mg melatonin in March subcutaneous implants and four untreated rams served as control. At 0, 30, 90 and 120 days semen samples were collected and sperm, separated from seminal plasma, was evaluated for its capacity to fertilize and produce embryos in vitro. Seminal plasma metabolites were extracted and analyzed by capillary electrophoresis/mass spectroscopy. In the resulting electropherograms, the area corresponding to selected metabolites was extracted and quantified. Ram melatonin treatment affected the in vitro fertilization competence of sperm. Blastocyst output increased until 90 days after treatment (27.20 ±â€¯7.35 vs 54.7 ±â€¯4.4% at 0 and 90 days respectively; p < 0.05) while the untreated group did not show statistical differences. In treated rams, the concentration of melatonin in seminal plasma increased from 3.34 ±â€¯1.70 at day 0-9.65 ±â€¯2.89 AU (Arbitrary Units) after 90 days, then decreased to reach the level of the untreated ram after 120 days (p < 0.05). During 90 days after melatonin treatment, an increase (p < 0.05) in seminal plasma concentrations of glutamic acid (6.28 ±â€¯1.53 vs 14.93 ±â€¯1.53 AU at 0 and 90 days respectively), glutamine (16.89 ±â€¯4.65 vs 54.51 ±â€¯4.65 AU), carnitine (22.97 ±â€¯9.81 vs 104.30 ±â€¯9.81 AU), acetyl-carnitine (48.15 ±â€¯17.32 vs 217.69 ±â€¯17.32 AU), choline (1.82 ±â€¯1.55 vs 14.16 ±â€¯1.55 AU) and arginine (1.31 ±â€¯1.08 vs 14.25 ±â€¯1.08 AU) was detected. Tyrosine concentration increased during 30 days from melatonin treatment (12.79 ±â€¯3.93 vs 27.08 ±â€¯3.04 AU) but at 90 days its levels were similar to the untreated group. In conclusion, melatonin treatment during the non-breeding season improves the concentration of several metabolites in seminal plasma and sperm fertilization competence in Sarda breed ram.


Asunto(s)
Fertilización/efectos de los fármacos , Melatonina/farmacología , Estaciones del Año , Semen/química , Oveja Doméstica , Espermatozoides/fisiología , Animales , Cruzamiento , Fertilidad/efectos de los fármacos , Fertilización In Vitro/veterinaria , Masculino , Melatonina/análisis , Semen/efectos de los fármacos , Espermatozoides/efectos de los fármacos
14.
Sci Rep ; 7(1): 7623, 2017 08 08.
Artículo en Inglés | MEDLINE | ID: mdl-28790322

RESUMEN

Mouflon (Ovis aries musimon) became extinct from mainland Europe after the Neolithic, but remnant populations from the Mediterranean islands of Corsica and Sardinia have been used for reintroductions across Europe since the 19th-century. Mouflon x sheep hybrids are larger-bodied than mouflon, potentially showing increased male reproductive success, but little is known about genomic levels of admixture, or about the adaptive significance of introgression between resident mouflon and local sheep breeds. Here we analysed Ovine medium-density SNP array genotypes of 92 mouflon from six geographic regions, along with data from 330 individuals of 16 domestic sheep breeds. We found lower levels of genetic diversity in mouflon than in domestic sheep, consistent with past bottlenecks in mouflon. Introgression signals were bidirectional and affected most mouflon and sheep populations, being strongest in one Sardinian mouflon population. Developing and using a novel approach to identify chromosomal regions with consistent introgression signals, we infer adaptive introgression from mouflon to domestic sheep related to immunity mechanisms, but not in the opposite direction. Further, we infer that Soay and Sarda sheep carry introgressed mouflon alleles involved in bitter taste perception and/or innate immunity. Our results illustrate the potential for adaptive introgression even among recently diverged populations.


Asunto(s)
Cruzamiento/métodos , Haplotipos , Filogenia , Oveja Doméstica/genética , Ovinos/genética , Animales , Cruzamientos Genéticos , Europa (Continente) , Femenino , Francia , Variación Genética , Especies Introducidas , Italia , Masculino , Filogeografía , Polimorfismo de Nucleótido Simple , Ovinos/clasificación , Oveja Doméstica/clasificación
15.
Hemoglobin ; 41(2): 96-99, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28671035

RESUMEN

The molecular basis of ß-thalassemia (ß-thal) mutations in North and in South Vietnam have been described during the past 15 years, whereas limited data were available concerning the central area of the country. In this study, we describe the molecular characterization and frequency of ß-globin gene mutations in the Thua Thien Hue Province of Central Vietnam as the result of a first survey conducted in 22 transfusion-dependent patients, and four unrelated heterozygotes. Nine different known mutations were identified (seven of the ß0 and two of the ß+ type) in a total of 48 chromosomes. The most common was codon 26 (G>A) or Hb E (HBB: c.79 G>A) accounting for 29.2% of the total studied chromosomes, followed by codon 17 (A>T) (HBB: c.52 A>T) (25.0%), and codons 41/42 (-TTCT) (HBB: c.126_129delCTTT) (18.8%). Other mutations with appreciable frequencies (6.3-8.3%) were IVS-I-1 (G>T) (HBB: c.92+1 G>T), codon 26 (G>T) (HBB: c.79 G>T) and codons 71/72 (+A) (HBB: c.216_217insA). Relatively rarer (2.0%) were the promoter -28 (A>G) (HBB: c.78 A>G) mutation, the codon 95 (+A) (HBB: c.287_288insA), which is reported only in the Vietnamese, and the codons 14/15 (+G) (HBB: c.45_46insG) mutation, thus far observed only in Thailand. Results are relevant for implementing appropriate measures for ß-thal prevention and control in the region as well as in the whole country.


Asunto(s)
Hemoglobina E/genética , Mutación , Globinas beta/genética , Talasemia beta/genética , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Vietnam/etnología , Talasemia beta/etnología
16.
Biomed Res Int ; 2017: 4537409, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28503568

RESUMEN

We report a novel ß+-thalassemia mutation found in a Vietnamese family. The molecular defect T→A lies at -72 of the ß-globin gene promoter, within the conserved CCAAT box. The index case was a 5-year-old child having red blood cells indices close to normal and slightly increased level of HbA2 (3.96%). The expression of the mutated ß allele was inferred by luciferase reporter assay in K562 cells. The ß -72 determinant is the eighth ß-thalassemic mutation identified in Vietnam and it was not previously reported in any population. The absence of homozygous or compound heterozygous states did not allow us to precisely predict either its clinical impact or its relevance in management programs. Our results further underline the importance of identifying and characterizing new or rare ß+-thalassemic alleles in carrier screening and prenatal diagnosis.


Asunto(s)
Mutación/genética , Globinas beta/genética , Talasemia beta/sangre , Talasemia beta/genética , Alelos , Niño , Femenino , Regulación de la Expresión Génica , Heterocigoto , Homocigoto , Humanos , Células K562 , Masculino , Linaje , Regiones Promotoras Genéticas/genética , Vietnam , Talasemia beta/patología
17.
Biomed Res Int ; 2017: 1261972, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28553644

RESUMEN

Hemoglobin (Hb) Lepore is composed of two normal α chains and two 뫧 fusion globins that arise from unequal crossover events between the δ- and ß-globin genes. The Hb Lepore is widespread all over the world and in many ethnic groups. It includes some of the few clinically significant Hb variants that are associated with a ß-thalassemia phenotype. Here, we describe the first occurrence of Hb Lepore Boston Washington in a Syrian individual. The patient, a 10-year-old child, shows severe anemia with a Hb level of 6.85 g/dL and typical thalassemic red cell indices. The diagnostic procedure implies hematological, biochemical, and molecular analysis, including multiplex ligation-dependent probe amplification (MLPA) assay, GAP-PCR, and DNA sequencing. This latter allowed us to define the correct structure of the hybrid δß-globin gene. The knowledge of the spectrum of mutations associated with different geographical areas is the prerequisite to set up large-scale screening programs and be able to offer genetic counseling to couples at risk.


Asunto(s)
Hemoglobinas Anormales , Homocigoto , Talasemia beta , Niño , Hemoglobinas Anormales/química , Hemoglobinas Anormales/genética , Hemoglobinas Anormales/metabolismo , Humanos , Siria , Talasemia beta/genética , Talasemia beta/metabolismo
18.
Acta Haematol ; 136(3): 178-85, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27561840

RESUMEN

During a screening for hemoglobinopathies, we found a carrier of the Sardinian δß-thalassemia condition. The proband's hematology and hemoglobin (Hb) profile agreed with those of the other carriers previously identified during our diagnostic program except for the fetal Hb (HbF) composition, which consisted of both α2Aγ2 and α2Gγ2 instead of nearly 100% α2Aγ2. In order to explain the unusual γ-chain ratio, sequencing of the Gγ promoter was carried out and revealed two nucleotide substitutions in cis: C→T at position -474 and A→G at position -309 from the Cap site. The latter had previously been observed in subjects with raised HbF levels, although it has not yet been evaluated at functional level. We used the luciferase assay to determine whether the two mutations modify the transcriptional activity of the Gγ promoter. Results indicated that the observed in vivo Gγ-globin production cannot be translated into increased in vitro promoter function, suggesting that the assessed mutations cannot be considered as functional single nucleotide polymorphisms per se; instead, a more complex regulatory mechanism might be involved.


Asunto(s)
Hemoglobina Fetal/genética , Regulación de la Expresión Génica/genética , Región de Control de Posición/genética , Mutación Puntual , Regiones Promotoras Genéticas/genética , Talasemia beta/genética , Talasemia delta/genética , Adulto , Femenino , Hemoglobina Fetal/biosíntesis , Humanos , Italia , Masculino , Talasemia beta/sangre , Talasemia delta/sangre
19.
Hemoglobin ; 40(1): 61-3, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26573261

RESUMEN

Here we describe Hb F-Avellino [(G)γ41(C7)Phe → Leu; HBG2: c.124 T > C], a new hemoglobin (Hb) variant observed in a healthy newborn. The proband's hemolysate was found to be mildly unstable by the isopropanol test. The occurrence of the variant was assessed by both chromatographic and electrophoretic methods. DNA sequencing analysis of the (G)γ gene showed a T to C transition at codon 41 (TTC > CTC) corresponding to the Phe → Leu substitution. Normal functional properties have been hypothesized.


Asunto(s)
Hemoglobina Fetal/genética , Mutación Puntual , gamma-Globinas/genética , Sustitución de Aminoácidos , Codón , Variación Genética , Humanos , Recién Nacido
20.
PLoS One ; 10(12): e0144257, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26636977

RESUMEN

Sheep are thought to have been one of the first livestock to be domesticated in the Near East, thus playing an important role in human history. The current whole mitochondrial genome phylogeny for the genus Ovis is based on: the five main domestic haplogroups occurring among sheep (O. aries), along with molecular data from two wild European mouflons, three urials, and one argali. With the aim to shed some further light on the phylogenetic relationship within this genus, the first complete mitochondrial genome sequence of a Cypriot mouflon (O. gmelini ophion) is here reported. Phylogenetic analyses were performed using a dataset of whole Ovis mitogenomes as well as D-loop sequences. The concatenated sequence of 28 mitochondrial genes of one Cypriot mouflon, and the D-loop sequence of three Cypriot mouflons were compared to sequences obtained from samples representatives of the five domestic sheep haplogroups along with samples of the extant wild and feral sheep. The sample included also individuals from the Mediterranean islands of Sardinia and Corsica hosting remnants of the first wave of domestication that likely went then back to feral life. The divergence time between branches in the phylogenetic tree has been calculated using seven different calibration points by means of Bayesian and Maximum Likelihood inferences. Results suggest that urial (O. vignei) and argali (O. ammon) diverged from domestic sheep about 0.89 and 1.11 million years ago (MYA), respectively; and dates the earliest radiation of domestic sheep common ancestor at around 0.3 MYA. Additionally, our data suggest that the rise of the modern sheep haplogroups happened in the span of time between six and 32 thousand years ago (KYA). A close phylogenetic relationship between the Cypriot and the Anatolian mouflon carrying the X haplotype was detected. The genetic distance between this group and the other ovine haplogroups supports the hypothesis that it may be a new haplogroup never described before. Furthermore, the updated phylogenetic tree presented in this study determines a finer classification of ovine species and may help to classify more accurately new mitogenomes within the established haplogroups so far identified.


Asunto(s)
Genoma Mitocondrial , Filogenia , Oveja Doméstica/genética , Animales , Femenino , Humanos , Masculino
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