Subduction-related hybridization of the lithospheric mantle revealed by trace element and Sr-Nd-Pb isotopic data in composite xenoliths from Tallante (Betic Cordillera, Spain)

Ultramafic xenoliths are rarely found at convergent plate margins. A notable exception is in the Betic Cordillera of southern Spain, where the eruption of xenolith-bearing alkaline basalts during the Pliocene post-dated the Cenozoic phase of plate convergence and subduction-related magmatism. Mantle xenoliths of the monogenetic volcano of Tallante display extreme compositional heterogeneities, plausibly related to multiple tectono-magmatic episodes that affected the area. This study focuses on two peculiar composite mantle xenolith samples from Tallante, where mantle peridotite is crosscut by felsic veins of different size and mineralogy, including quartz, orthopyroxene, and plagioclase. The veins are separated from the peridotite matrix by an orthopyroxene-rich reaction zone, indicating that the causative agents were alkali-rich hydrous silica-oversaturated melts, which were likely related to recycling of subducted continental crust components. The present study reports new and detailed major and trace elements and Sr-Nd-Pb analyses of the minerals in the composite Tallante xenoliths that confirm the continental crust derivation of the metasomatic melts, and clarifies the mode in which subduction-related components are transferred to the mantle wedge in orogenic areas. The particular REE patterns of the studied minerals, as well as the variation of the isotopic ratios between the different zones of the composite xenoliths, reveal a complex metasomatic process. The distribution of the different elements, and their isotope ratios, in the studied xenoliths are controlled by the mineral phases stabilised by the interaction between the percolating melts and the peridotitic country rock. The persistence of marked isotopic heterogeneities and the lack of re-equilibration suggest that metasomatism of the sub-continental lithospheric mantle occurred shortly before the xenolith exhumation. In this scenario, the studied xenoliths and the metasomatic processes that affected them may be representative of the mantle sources of mafic potassic to ultrapotassic magmas occurring in post-collisional tectonic settings

MSY Breakpoint Mapper, a database of sequence-tagged sites useful in defining naturally occurring deletions in the human Y chromosome

Y chromosome deletions arise frequently in human populations, where they cause sex reversal and Turner syndrome and predispose individuals to infertility and germ cell cancer. Knowledge of the nucleotide sequence of the male-specific region of the Y chromosome (MSY) makes it possible to precisely demarcate such deletions and the repertoires of genes lost, offering insights into mechanisms of deletion and the molecular etiologies of associated phenotypes. Such deletion mapping is usually conducted using polymerase chain reaction (PCR) assays for the presence or absence of a series of Y-chromosomal DNA markers, or sequence-tagged sites (STSs). In the course of mapping intact and aberrant Y chromosomes during the past two decades, we and our colleagues have developed robust PCR assays for 1287 Y-specific STSs. These PCR assays amplify 1698 loci at an average spacing of <14 kb across the MSY euchromatin. To facilitate mapping of deletions, we have compiled a database of these STSs, MSY Breakpoint Mapper (http://breakpointmapper.wi.mit.edu/). When queried, this online database provides regionally targeted catalogs of STSs and nearby genes. MSY Breakpoint Mapper is useful for efficiently and systematically defining the breakpoint(s) of virtually any naturally occurring Y chromosome deletion.National Institutes of Health (U.S.)Howard Hughes Medical Institut

Y chromosome microdeletions in infertile men with idiopathic oligo- or azoospermia

About 30–40% of male infertility is due to unknown reasons. Genetic contributions to the disruption of spermatogenesis are suggested and amongst the genetic factors studied, Y chromosome microdeletions represent the most common one. Screening for microdeletions in AZFa, b and c region of Y chromosome showed a big variation among different studies. The purpose of this study was to investigate the prevalence of such deletions in Saudi men. A total of 257 patients with idiopathic oligo- or azoospermia were screened for Y chromosome microdeletions by 19 markers in AZF region. Ten (3.9%) patients had chromosomal rearrangements, six of them showed sex chromosome abnormalities and four patients had apparently balanced autosomal rearrengements. Eight of the remaining 247 patients (3.2%) with a normal karyotype and no known causes of impaired spermatogenesis had Y chromosome microdeletions. Among these, six patients had deletions in AZFc region, one case had a deletion in AZFb and another had both AZFa and AZFc deletions. In conclusion, our study shows that Y chromosome microdeletions are low in our population. We also report for the first time a case with unique point deletions of AZFa and AZFc regions. The lower frequency of deletions in our study suggest that other genetic, epigenetic, nutritional and local factors may be responsible for idiopathic oligo- or azoospermia in the Saudi population

Blastocerus dichotomus (Illger, 1815).

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Unique Signatures of Natural Background Radiation on Human Y Chromosomes from Kerala, India

The most frequently observed major consequences of ionizing radiation are chromosomal lesions and cancers, although the entire genome may be affected. Owing to its haploid status and absence of recombination, the human Y chromosome is an ideal candidate to be assessed for possible genetic alterations induced by ionizing radiation. We studied the human Y chromosome in 390 males from the South Indian state of Kerala, where the level of natural background radiation (NBR) is ten-fold higher than the worldwide average, and that from 790 unexposed males as control.We observed random microdeletions in the Azoospermia factor (AZF) a, b and c regions in >90%, and tandem duplication and copy number polymorphism (CNP) of 11 different Y-linked genes in about 80% of males exposed to NBR. The autosomal homologues of Y-linked CDY genes largely remained unaffected. Multiple polymorphic copies of the Y-linked genes showing single Y-specific signals suggested their tandem duplication. Some exposed males showed unilocus duplication of DAZ genes resulting in six copies. Notably, in the AZFa region, approximately 25% of exposed males showed deletion of the DBY gene, whereas flanking genes USP9Y and UTY remained unaffected. All these alterations were detected in blood samples but not in the germline (sperm) samples.Exposure to high levels of NBR correlated with several interstitial polymorphisms of the human Y chromosome. CNPs and enhanced transcription of the SRY gene after duplication are envisaged to compensate for the loss of Y chromosome in some cells. The aforesaid changes, confined to peripheral blood lymphocytes, suggest a possible innate mechanism protecting the germline DNA from the NBR. Genome analysis of a larger population focusing on greater numbers of genes may provide new insights into the mechanisms and risks of the resultant genetic damages. The present work demonstrates unique signatures of NBR on human Y chromosomes from Kerala, India

Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

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