Abstract:
:Chemical mutagenesis in the mouse is a powerful approach for phenotype-driven genetics, but questions remain about the efficiency with which new mutations ascertained by their phenotype can be localized and identified, and that knowledge applied to a specific biological problem. During a global screen for dominant phenotypes in about 30,000 animals, a novel class of pigmentation mutants were identified by dark skin (Dsk). We determined the genetic map location, homozygous phenotype, and histology of 10 new Dsk and 2 new dark coat (Dcc) mutations, and identified mutations in Agouti (Met1Leu, Dcc4), Sox18 (Leu220ter, Dcc1), Keratin 2e (Thr500Pro, Dsk2), and Egfr (Leu863Gln, Dsk5). Cutaneous effects of most Dsk mutations are limited to melanocytes, except for the Keratin 2e and Egfr mutations, in which hyperkeratosis and epidermal thickening precede epidermal melanocytosis by 3-6 wk. The Dsk2 mutation is likely to impair intermediate filament assembly, leading to cytolysis of suprabasal keratinocytes and secondary hyperkeratosis and melanocytosis. The Dsk5 mutation causes increased tyrosine kinase activity and a decrease in steady-state receptor levels in vivo. The Dsk mutations represent genes or map locations not implicated previously in pigmentation, and delineate a developmental pathway in which mutations can be classified on the basis of body region, microscopic site, and timing of pigment accumulation.
journal_name
Genes Devjournal_title
Genes & developmentauthors
Fitch KR,McGowan KA,van Raamsdonk CD,Fuchs H,Lee D,Puech A,Hérault Y,Threadgill DW,Hrabé de Angelis M,Barsh GSdoi
10.1101/gad.1023703subject
Has Abstractpub_date
2003-01-15 00:00:00pages
214-28issue
2eissn
0890-9369issn
1549-5477journal_volume
17pub_type
杂志文章abstract::A new gene, SCH9, was isolated from Saccharomyces cerevisiae by its ability to complement a cdc25ts mutation. Sequence analysis indicates that it encodes a 90,000-dalton protein with a carboxy-terminal domain homologous to yeast and mammalian cAMP-dependent protein kinase catalytic subunits. In addition to suppressing...
journal_title:Genes & development
pub_type: 杂志文章
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abstract::Myxococcus xanthus development requires CsgA, a member of the short-chain alcohol dehydrogenase (SCAD) family of proteins. We show that CsgA and SocA, a protein that can replace CsgA function in vivo, oxidize the 2'-OH glycerol moiety on cardiolipin and phosphatidylglycerol to produce diacylglycerol (DAG), dihydroxyac...
journal_title:Genes & development
pub_type: 杂志文章
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abstract::An RNA-binding protein gene (rbp1) from Drosophila melanogaster, encoding an RNA recognition motif and an Arg-Ser rich (RS) domain, has been characterized. The predicted amino acid sequence of rbp1 is similar to those of the human splicing factor ASF/SF2, the Drosophila nuclear phosphoprotein SRp55, and the Drosophila...
journal_title:Genes & development
pub_type: 杂志文章
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abstract::Bloom's syndrome (BS) is an autosomal recessive disorder characterized by a strong cancer predisposition. The defining feature of BS is extreme genome instability. The gene mutated in Bloom's syndrome, BLM, encodes a DNA helicase (BLM) of the RecQ family. BLM plays a role in homologous recombination; however, its exac...
journal_title:Genes & development
pub_type: 杂志文章
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journal_title:Genes & development
pub_type: 杂志文章
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abstract::Adenomatous polyposis coli (APC) regulates the activity of β-catenin, an integral component of Wnt signaling. However, the selective role of the APC-β-catenin pathway in cerebral cortical development is unknown. Here we genetically dissected the relative contributions of APC-regulated β-catenin signaling in cortical p...
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journal_title:Genes & development
pub_type: 杂志文章
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abstract::The eukaryotic ribosomal RNA (rRNA) is associated cotranscriptionally with numerous factors into an enormous 90S preribosomal particle that conducts early processing of small ribosomal subunits. The assembly pathway and structure of the 90S particle is poorly understood. Here, we affinity-purified and analyzed the con...
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journal_title:Genes & development
pub_type: 杂志文章
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更新日期:1988-05-01 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.1060403
更新日期:2003-02-15 00:00:00
abstract::Deregulated expression of the c-myc proto-oncogene can lead to apoptosis under certain physiological conditions. By introducing a conditionally active Myc allele into primary embryo fibroblasts null for p53, and into fibroblasts without endogenous p53 expression but ectopically expressing a temperature-sensitive p53 a...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.8.23.2817
更新日期:1994-12-01 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
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abstract::DNA methylation is a key regulator of embryonic stem cell (ESC) biology, dynamically changing between naïve, primed, and differentiated states. The p53 tumor suppressor is a pivotal guardian of genomic stability, but its contributions to epigenetic regulation and stem cell biology are less explored. We report that, in...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.299198.117
更新日期:2017-05-15 00:00:00
abstract::Kinetochores play an essential role in chromosome segregation by forming dynamic connections with spindle microtubules. Here, we identify a set of 10 copurifying kinetochore proteins from Caenorhabditis elegans, seven of which were previously uncharacterized. Using in vivo assays to monitor chromosome segregation, kin...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.1234104
更新日期:2004-09-15 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.377106
更新日期:2006-06-01 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.872801
更新日期:2001-03-01 00:00:00
abstract::GRF2, an abundant yeast protein of Mr approximately 127,000, binds to the GAL upstream activating sequence (UASG) and creates a nucleosome-free region of approximately 230 bp. Purified GRF2 binds to sequences found in many other UASs, in the 35S rRNA enhancer, at centromeres, and at telomeres. Although GRF2 stimulates...
journal_title:Genes & development
pub_type: 杂志文章
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journal_title:Genes & development
pub_type: 杂志文章
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abstract::During embryonic development in vertebrates, the endoderm becomes patterned along the anteroposterior axis to produce distinct derivatives. How this regulation is controlled is not well understood. We report that the zebrafish hairy/enhancer of split [E(spl)]-related gene her5 plays a critical role in this process. At...
journal_title:Genes & development
pub_type: 杂志文章
doi:
更新日期:2000-07-01 00:00:00
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journal_title:Genes & development
pub_type: 评论,杂志文章
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更新日期:2011-05-01 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.9.18.2266
更新日期:1995-09-15 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.1825809
更新日期:2009-09-15 00:00:00
abstract::The HOP2 and MND1 genes are indispensable for meiotic recombination. The products of these genes associate to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of Rad51 and Dmc1. Here we conduct molecular studies to delineate the action mechanism of the Hop2-Mnd1 complex. We pr...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.1563007
更新日期:2007-07-15 00:00:00
abstract::RUNX1/AML1 is required for the development of definitive hematopoiesis, and its activity is altered by mutations, deletions, and chromosome translocations in human acute leukemia. RUNX1 function can be regulated by post-translational modifications and protein-protein interactions. We show that RUNX1 is arginine-methyl...
journal_title:Genes & development
pub_type: 杂志文章
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更新日期:2008-03-01 00:00:00
abstract::Long noncoding RNAs (lncRNAs) can trigger repressive chromatin, but how they recruit silencing factors remains unclear. In Schizosaccharomyces pombe, heterochromatin assembly on transcribed noncoding pericentromeric repeats requires both RNAi and RNAi-independent mechanisms. In Saccharomyces cerevisiae, which lacks a ...
journal_title:Genes & development
pub_type: 杂志文章
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更新日期:2013-09-01 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
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更新日期:1994-08-01 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.455407
更新日期:2007-12-15 00:00:00
abstract::The neurogenic loci of Drosophila are required for proper partitioning of ectodermal cells into epidermal versus neural lineages. The loci appear to encode components of a developmental pathway involving cellular communication. In an effort to understand the role of the neurogenic locus mastermind in these processes, ...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.4.10.1688
更新日期:1990-10-01 00:00:00