21 research outputs found

    Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population

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    Germ-line mutations in BRCA1 breast cancer susceptibility gene account for a large proportion of hereditary breast cancer families and show considerable ethnic and geographical variations. The contribution of BRCA1 mutations to hereditary breast cancer has not yet been thoroughly investigated in Middle Eastern and North African populations. In this study, 16 Tunisian high-risk breast cancer families were screened for germline mutations in the entire BRCA1 coding region and exonā€“intron boundaries using direct sequencing. Six families were found to carry BRCA1 mutations with a prevalence of 37.5%. Four different deleterious mutations were detected. Three truncating mutations were previously described: c.798_799delTT (916 delTT), c.3331_3334delCAAG (3450 delCAAG), c.5266dupC (5382 insC) and one splice site mutation which seems to be specific to the Tunisian population: c.212Ā +Ā 2insG (IVS5Ā +Ā 2insG). We also identified 15 variants of unknown clinical significance. The c.798_799delTT mutation occurred at an 18% frequency and was shared by three apparently unrelated families. Analyzing five microsatellite markers in and flanking the BRCA1 locus showed a common haplotype associated with this mutation. This suggests that the c.798_799delTT mutation is a Tunisian founder mutation. Our findings indicate that the Tunisian population has a spectrum of prevalent BRCA1 mutations, some of which appear as recurrent and founding mutations

    Response to old seeds coming in from the cold

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    Stone Age hut in Israel yields world's oldest evidence of bedding

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    The earliest archaeological remains of dwelling huts built by Homo sapiens were found in various European Upper Paleolithic open-air camps. Although floors of huts were found in a small number of cases, modern organization of the home space that includes defined resting areas and bedding remains was not discovered. We report here the earliest in situ bedding exposed on a brush hut floor. It has recently been found at the previously submerged, excellently preserved 23,000-year-old fisher-hunter-gatherers' camp of Ohalo II, situated in Israel on the shore of the Sea of Galilee. The grass bedding consists of bunches of partially charred Puccinellia confer convoluta stems and leaves, covered by a thin compact layer of clay. It is arranged in a repeated pattern, on the floor, around a central hearth. This study describes the bedding in its original context on a well preserved intentionally constructed floor. It also reconstructs on the basis of direct evidence (combined with ethnographic analogies) the Upper Paleolithic hut as a house with three major components: a hearth, specific working locales, and a comfortable sleeping area near the walls

    Germination, genetics and growth of an ancient date seed

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    An ancient date seed (Phoenix dactylifera L.) excavated from Masada and radiocarbon-dated to the first century Common Era was germinated. Climatic conditions at the Dead Sea may have contributed to the longevity of this oldest, directly dated, viable seed. Growth and development of the seedling over 26 months was compatible with normal date seedlings propagated from modern seeds. Preliminary molecular characterization demonstrated high levels of genetic variation in comparison to modern, elite date cultivars currently growing in Israel. As a representative of an extinct date palm population, this seedling can provide insights into the historic date culture of the Dead Sea region. It also has importance for seed banking and conservation and may be of relevance to modern date palm cultivation
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