1,721,142 research outputs found
X chromosome gene dosage compensation in female mammals
No full textDosage compensation for X chromosome-linked genes is achieved in female mammals by the transcriptional inactivation of one of the two X chromosomes during embryogenesis. The mechanism by which thousands of genes on only one of a pair of apparently identical chromosomes is turned off represents one of the most fascinating problems in mammalian genetics. Recent data, including the identification of a gene (XIST) exclusively expressed by the inactive X chromosome, may open the way to the understanding of the molecular mechanisms underlying X chromosome inactivation. © 1993 Academic Press. All rights reserved
Drosophila-related expressed sequences.
No full textThe study of model organisms has been instrumental towards the elucidation of the basic mechanisms of human biology. Drosophila melanogaster has been the target of extensive genetic analyses over the past 90 years and a notable amount of information is known about its gene structure, gene regulation and gene function. The vast gene resource generated by the expressed sequence tags (ESTs) efforts was exploited to identify, using a bioinformatic approach, novel human and murine gene transcripts homologous to Drosophila mutant genes. A systematic characterization of these genes, named Drosophila-related expressed sequences (DRES), was performed including genomic mapping in human and mouse and detailed study of their expression pattern by RNA in situ hybridization experiments. Comparison between DRES genes and their putative partners in Drosophila contributes to the understanding of their function in mammals and to the discovery of their possible role in disease
How to get the best of dbEST
No full textExpressed sequence tags (ESTs) are nucleotide sequences generated from the ends of randomly selected cDNA clones. The remarkable expansion of EST efforts in the past seven years[ 1 , 2 , 3 ]has undoubtedly led to a revolutionary change in the strategies used by molecular geneticists for identifying and cloning novel genes. More than 1 200 000 entries generated from different tissues and species are now stored in the public EST database (dbEST)[ 4 , 5 ], maintained at the National Center for Biotechnology Information (NCBI). Human and mouse sequences form the majority of the data held in this collection, with 833 000 and 237 000 entries, respectively (as of 25 October, 1997)[ 6 ]. For most of the clones, ESTs have been generated at both ends and the corresponding sequence traces can be easily retrieved for quality checking[ 7 ]; furthermore, it is possible to obtain in a few days most of the EST cDNA clones, such as the ones generated by the IMAGE consortium and The Institute for Genomic Research (TIGR)[ 1 , 8 ], from international distributors[ 9 ]. EST clones represent useful molecular tools for gene characterization experiments, expression studies, and expression of recombinant proteins. In most cases, a single EST clone (average insert size around 1.5 kb) does not span the entire coding region of a gene. However, before starting any experimental procedure aimed at the isolation of the remaining part of the transcript, it must be pointed out that several bioinformatic tools exist that allow one to obtain full-length transcript information and refined chromosomal mapping assignment
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.
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SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.
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