Phenotypic annotation of the mouse X chromosome
| العنوان: | Phenotypic annotation of the mouse X chromosome |
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| المؤلفون: | Wolfgang Wurst, Brian J. Cox, Ralf Kühn, Steffen Biechele, Heiko Lickert, Claude Van Campenhout, Marina Gertsenstein, Janet Rossant, Thomas Floss, Marion Vollmer, Owen J. Tamplin, Mei Lu |
| المصدر: | Genome Res. 20, 1154-1164 (2010) Genome research 20(8), 1154-1164 (2010). doi:10.1101/gr.105106.110 |
| سنة النشر: | 2010 |
| مصطلحات موضوعية: | Resource, X Chromosome, methods [Genetic Testing], genetics [X Chromosome], Mutant, DNA Mutational Analysis, Molecular Sequence Data, Biology, Genome, Mice, x-linked genetic disorder, mutation, Mendelian disease, Genes, X-Linked, Proto-Oncogene Proteins, genetics [Genetic Diseases, X-Linked], genetics [Chromosomes, Human, X], Genetics, Animals, Humans, Genetic Predisposition to Disease, Genetic Testing, Gene, Genetics (clinical), X chromosome, Chromosomes, Human, X, Autosome, Base Sequence, PORCN protein, human, Membrane Proteins, genetics [Mental Retardation, X-Linked], BCOR protein, human, Genetic Diseases, X-Linked, Molecular Sequence Annotation, methods [DNA Mutational Analysis], Phenotype, PORCN, Repressor Proteins, genetics [Membrane Proteins], genetics [Repressor Proteins], ddc:540, Mental Retardation, X-Linked, Genes, Lethal, genetics [Proto-Oncogene Proteins], Chromosome 21, Acyltransferases |
| الوصف: | Mutational screens are an effective means used in the functional annotation of a genome. We present a method for a mutational screen of the mouse X chromosome using gene trap technologies. This method has the potential to screen all of the genes on the X chromosome without establishing mutant animals, as all gene-trapped embryonic stem (ES) cell lines are hemizygous null for mutations on the X chromosome. Based on this method, embryonic morphological phenotypes and expression patterns for 58 genes were assessed, ∼10% of all human and mouse syntenic genes on the X chromosome. Of these, 17 are novel embryonic lethal mutations and nine are mutant mouse models of genes associated with genetic disease in humans, including BCOR and PORCN. The rate of lethal mutations is similar to previous mutagenic screens of the autosomes. Interestingly, some genes associated with X-linked mental retardation (XLMR) in humans show lethal phenotypes in mice, suggesting that null mutations cannot be responsible for all cases of XLMR. The entire data set is available via the publicly accessible website (http://xlinkedgenes.ibme.utoronto.caTest/). |
| وصف الملف: | application/pdf |
| تدمد: | 1549-5469 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b44d58cd5065b8d52c9badbae6f3d95Test https://pubmed.ncbi.nlm.nih.gov/20548051Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8b44d58cd5065b8d52c9badbae6f3d95 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15495469 |
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