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Identification of regulatory elements within the minimal promoter region of the human endogenous ERV9 proviruses: accurate transcription initiation is controlled by an Inr-like element.
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G La Mantia B Majello A Di Cristofano M Strazzullo G Minchiotti L Lania 《Nucleic acids research》1992,20(16):4129-4136
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Kay Huebner Teresa Druck Sal LaForgia Jerzy Lasota Carlo M. Croce Luisa Lanfrancone Emilio Donti Gina Pengue Girolama La Mantia Pier-Giuseppe Pelicci Luigi Lania 《Human genetics》1993,91(3):217-222
cDNA clones encoding zinc finger motifs were isolated by screening human placenta and T-cell (Peer) cDNA libraries with zinc finger (ZNF) consensus sequences. Unique cDNA clones were mapped in the human genome by rodent-human somatic cell hybrid analysis and in some cases in situ chromosomal hybridization. ZNF 80 mapped to 3p12-3qter, ZNF 7 was previously mapped to 8q24 and is here shown by in situ hybridization and use of appropriate hybrids to map telomeric to the MYC locus. ZNF 79 mapped to 9q34 centromeric to the ABL gene and between a constitutional chromosomal translocation on the centromeric side and the CML specific ABL translocation on the telomeric side. ZNF77 mapped to 19p while ZNF 78L1 (pT3) mapped to 19q. Chromosome 19 carries many ZNF loci and other genes with zinc finger encoding motifs; the pT3 clone additionally detected a locus designated ZNF 78L2, which mapped to chromosome region 1p, most likely in the region 1p32 where the MYCL and JUN loci map. 相似文献
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Summary
D. melanogaster males of
bb/O genetic constitution undergoing rDNA magnification were mated singly to XXbb
+/O females, yielding
bb/O male progeny, and to XNO-w sn bb
+ fameles, yielding
bb/XNO- females. The male and female offspring were scored for the bb
+ phenotype.Results show that there is a higher percentage of bb
+ flies in the
bb/O male progeny than in
bb/XNO- females progeny, in single crosses as well as in the combined data. rRNA/DNA hybridization experiments agree with this observation, by showing that the rDNA content in the progeny of premagnified flies was higher in the sons than in the daughters.These data indicate that the increase of ribosomal RNA genes is not due to a stable event such as an unequal mitotic sister exchange, whereas they do not contrast with the extracopy model. 相似文献
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Kitty?K. Lo Evangelia Karampetsou Christopher Boustred Fiona McKay Sarah Mason Melissa Hill Vincent Plagnol Lyn?S. Chitty 《American journal of human genetics》2016,98(1):34-44
The use of massively parallel sequencing of maternal cfDNA for non-invasive prenatal testing (NIPT) of aneuploidy is widely available. Recently, the scope of testing has increased to include selected subchromosomal abnormalities, but the number of samples reported has been small. We developed a calling pipeline based on a segmentation algorithm for the detection of these rearrangements in maternal plasma. The same read depth used in our standard pipeline for aneuploidy NIPT detected 15/18 (83%) samples with pathogenic rearrangements > 6 Mb but only 2/10 samples with rearrangements < 6 Mb, unless they were maternally inherited. There were two false-positive calls in 534 samples with no known subchromosomal abnormalities (specificity 99.6%). Using higher read depths, we detected 29/31 fetal subchromosomal abnormalities, including the three samples with maternally inherited microduplications. We conclude that test sensitivity is a function of the fetal fraction, read depth, and size of the fetal CNV and that at least one of the two false negatives is due to a low fetal fraction. The lack of an independent method for determining fetal fraction, especially for female fetuses, leads to uncertainty in test sensitivity, which currently has implications for this technique’s future as a clinical diagnostic test. Furthermore, to be effective, NIPT must be able to detect chromosomal rearrangements across the whole genome for a very low false-positive rate. Because standard NIPT can only detect the majority of larger (>6 Mb) chromosomal rearrangements and requires knowledge of fetal fraction, we consider that it is not yet ready for routine clinical implementation. 相似文献
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Federica Zito Marino Giuseppina Liguori Gabriella Aquino Elvira La Mantia Silvano Bosari Stefano Ferrero Lorenzo Rosso Gabriella Gaudioso Nicla De Rosa Marianna Scrima Nicola Martucci Antonello La Rocca Nicola Normanno Alessandro Morabito Gaetano Rocco Gerardo Botti Renato Franco 《PloS one》2015,10(10)
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