Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Melanomas of sporadic and familial origin develop in a stepwise fashion in approximately 40-80% of all cases; yet, the genetic events governing the progression from nevocytic precursor lesions to early and advanced-stage melanomas remain largely unknown. In the present study, we provide an analysis of genes that were identified in four recently generated primary and metastatic melanoma Serial Analysis of Gene Expression (SAGE) libraries. In addition to SAGE tags corresponding to transcripts with unknown function, or to unidentified transcripts, known genes were identified that hitherto have not been shown to be expressed or have a function in early and advanced-stage melanomas and/or melanoma precursor lesions. Conducting fluorescence imaging analysis with cyanine dye-conjugated antibodies and oligonucleotides, we established the expression pattern of ATM, HEI10, PKD1, KAI11, IL-10R, and hypothetical protein FLJ11151 in nevus and melanoma specimens.
 ...
PMID:SAGE identification and fluorescence imaging analysis of genes and transcripts in melanomas and precursor lesions. 1476 94

Genetic screens have been crucial for deciphering many important biological processes, including meiosis. In Arabidopsis thaliana, previous forward screens have likely identified almost all the meiotic genes that when mutated lead to a pronounced decrease in fertility. However, the increasing number of genes identified in reverse genetics studies that play crucial roles in meiosis, but do not exhibit strong phenotypes when mutated, suggests that there are still many genes with meiotic function waiting to be discovered. In this study, we produced 897 A. thaliana homozygous mutant lines using Ethyl Methyl Sulfonate (EMS) mutagenesis followed by either single seed descent or haploid doubling. Whole genome sequencing of a subset of lines showed an average of 696 homozygous mutations per line, 195 of which (28%) modify a protein sequence. To test the power of this library, we carried out a forward screen looking for meiotic defects by observing chromosomes at metaphase I of male meiosis. Among the 649 lines analyzed, we identified 43 lines with meiotic defects. Of these, 21 lines had an obvious candidate causal mutation, namely a STOP or splicing site mutation in a gene previously shown to play a role in meiosis (ATM, MLH3, MLH1, MER3, HEI10, FLIP, ASY4, FLIP, PRD2, REC8, FANCL, and PSS1). Interestingly, this was the first time that six of these genes were identified in a forward screen in Arabidopsis (MLH3, MLH1, SGO1, PSS1, FANCL, and ASY4). These results illustrate the potential of this mutant population for screening for any qualitative or quantitative phenotype. Thus, this new mutant library is a powerful tool for functional genomics in A. thaliana. The HEM (Homozygote EMS Mutants) lines are available at the Versailles Arabidopsis stock center.
 ...
PMID:The HEM Lines: A New Library of Homozygous Arabidopsis thaliana EMS Mutants and its Potential to Detect Meiotic Phenotypes. 3028 71