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mlh1

mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)

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GeneInformationForm
GeneName mlh1
Aliases ENSDARG:ENSDARG00000025948; MGC66301; zgc:66301; mlh1
Description mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
GenomicLocation chromosome 13 43255387-43270620 forward strand
ExternalIDs Entrez:393632; EMBL:BC057507; UniGene:77529; ZFIN:ZDB-GENE-040426-1600;
TranscriptID ENSDART:ENSDART00000133388; ENSDART:ENSDART00000038360; ENSDART:ENSDART00000147996
mRNA NCBI:NM_200659
GeneDescription Mlh1 is a member of DNA mismatch repair (MMR) machinery and is also essential for the stabilization of crossovers during the first meiotic division.
GeneFunction During pachytene, Mlh1 forms distinct foci on the synapsed chromosomes; Marcon and Moens (2003) showed these foci to coincide with the sites of crossover in timing, number and position. Mlh1 protein is also believed to stabilize crossover sites, which are essential for keeping the homologous chromosomes in a paired conformation during the first meiotic division.Mismatch repair machinery corrects errors in newly synthesized DNA. This system is composed of many members, Jun et al. (2006) showed mlh1 as one of the key proteins of this member.
GeneCloning The gene is contained in BAC clone CH211-229O17 (Vector: pTARBAC2.1).
GeneStructure ENSDARP00000121589
Protein ENSDARP00000113460 ENSDARP00000034180 ENSDARP00000121589
ProteinDomainandFamilies has domain InterPro:IPR011186; InterPro:IPR014762; InterPro:IPR003594; InterPro:IPR014721; InterPro:IPR002099; InterPro:IPR014763; InterPro:IPR013507;
Motifs has motif Prosite:PS00058; PFAM:PF01119; PFAM:PF02518;
Expression ArrayExpress:ENSDARG00000025948
GeneOntology GO:0016887; GO:0032407; GO:0003697; GO:0005524; GO:0030983; GO:0006298; GO:0007131; GO:0016446; GO:0006298; GO:0051026; GO:0007059; GO:0007141; GO:0043060; GO:0007283; GO:0032389; GO:0032390; GO:0005712; GO:0032300; GO:0000795; GO:0005634
Orthologs

VariationAndRepeats RSID:rs180117632; RSID:rs179643465; RSID:rs179643640; RSID:rs179643648; RSID:rs179643663; RSID:rs179643511; RSID:rs179643488; RSID:rs180117631
DisordersAndMutations Feitsma et al. (2007) studied the meiotic processes in a knockout line for mlh1 in zebrafish. Male mlh1 mutants are sterile and displayed an arrest in spermatogenesis at metaphase I, resulting in increased testis weight due to the accumulation of prophase I spermatocytes whereas females are fully sterile, but their progeny showed high rates of dysmorphology and mortality within the first days of development. SNP-based chromosome analysis showed this to be caused by aneuploidy, resulting from meiosis I chromosomal missegregation.Leal et al. (2008) have crossed the original mlh1 mutant founder back to wild-type fish of its own line twice and showed the ability of homozygous mutant to finish meiosis, with reduced numbers of spermatozoa that resulted in aneuploid embryos. The phenotype they obtained highly resembled that of female fish. Thus, mlh1 is essential for proper meiosis, whereas cell division can progress without functional mlh1.
RelatedPubMedArticles Feitsma, H.; Leal, M. C.; Moens, P. B.; Cuppen, E.; Schulz, R. W.: Mlh1 deficiency in zebrafish results in male sterility and aneuploid as well as triploid progeny in females. Genetics. 2007 Apr;175(4):1561-9. Epub 2007 Jan 21. PMID:17237513 Leal, M. C.; Feitsma, H.; Cuppen, E.; Franša, L. R.; Schulz, R. W.: Completion of meiosis in male zebrafish (Danio rerio) despite lack of DNA mismatch repair gene mlh1. Cell Tissue Res. 2008 Apr;332(1):133-9. Epub 2008 Feb 5. PMID:18247060 NCBI Resource Coordinators.: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 41(Database issue):D8-D20. 2013. PMID:23193264
Kersey, P. J.; Allen, J. E.; Christensen, M.; et al.: Ensembl Genomes 2013: scaling up access to genome-wide data. Nucleic Acids Res. 2013. PMID:24163254
Sigrist, C. J. A.; de, Castro, E; Cerutti, L; Cuche, B. A.; Hulo, N.; Bridge, A.; Bougueleret, L. Xenarios, I.: New and continuing developments at PROSITE. Nucleic Acids Res. doi: 10.1093/nar/gks1067. 2012. PMID:23161676
Punta, M.; Coggill, P. C.; Eberhardt, et al.: The Pfam protein families database. Nucleic Acids Res. 40(Database Issue):D290-D301. 2012. PMID:22127870
Hunter, S.; Jones P.; Mitchell A.; et al.: Interpro in 2011: new developments in the family and domain prediction database. Nucleic Acids Res. doi: 10.1093/nar/gkr948. 2011. PMID:22096229
Carbon, S.; Ireland, A.; Mungall, C. J.; Shu, S.; Marshall, B.; Lewis, S.; AMIGO Hub; Web Presence Working Group.: AMIGO: online access to ontology and annotation data. Bioinformatics. 25(2):288-9. 2009. PMID:19033274
Ashburner, M.; Ball, C. A.; Blake, J. A.; et al. The Gene Ontology Consortium.: Gene ontology: tool for the unification of biology. Nat. Genet. 25(1):25-9. 2000. PMID:10802651
Sherry, S. T.; Ward, M. H.; Kholodov, M.; Baker, J.; Phan, L.; Smigielski, E. M.; Sirotkin, K.: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 1;29(1):308-11. 2001. PMID:11125122
Bradford, Y.; Conlin, T.; Dunn, N.; et al.: ZFIN: enhancements and updates to the zebrafish model organism database. Nucleic Acids Res. 39(suppl 1):D822-D829. 2011. PMID:21036866
Kapushesky, M.; Adamusiak, T.; Burdett, T.; et al.: Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments. Nucleic Acids Res. 40(Database isue):D1077-81. 2012. PMID:22064864

Web resources:
NCBI: http://www.ncbi.nlm.nih.gov/
PFAM: http://pfam.sanger.ac.uk/
PROSITE: http://prosite.expasy.org/
Interpro: http://www.ebi.ac.uk/interpro/
ZFIN: http://zfin.org/
Expression Atlas (EMBL): http://www.ebi.ac.uk/gxa/
Ensembl: http://asia.ensembl.org/Danio_rerio/
Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine.: http://www.ncbi.nlm.nih.gov/SNP/
PRINTS from Genomenet: http://www.genome.jp/
European Nucleotide Archive: http://www.ebi.ac.uk/ena/home
UNIGENE: http://www.ncbi.nlm.nih.gov/unigene/
AMIGO Gene Ontology: http://amigo.geneontology.org
Topic revision: r2 - 2013-07-30 - SrishtiNanda
 
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