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HPMR

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Helicase, Lymphoid-specific OKDB#: 3664
 Symbols: HELLS Species: human
 Synonyms: LSH, PASG, SMARCA6, FLJ10339, Nbla10143,LSH|SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 6, SMARCA6|PROLIFERATION-ASSOCIATED SNF2-LIKE GENE, PASG  Locus: 10q24.2 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
General function Chromosome organization, Enzyme
Comment
Cellular localization Nuclear
Comment
Ovarian function Oogenesis, Oocyte maturation
Comment
Expression regulated by
Comment
Ovarian localization Oocyte
Comment Lsh is required for meiotic chromosome synapsis and retrotransposon silencing in female germ cells. De La Fuente R et al. Lymphoid specific helicase (Lsh) is a major epigenetic regulator that is essential for DNA methylation and transcriptional silencing of parasitic elements in the mammalian genome. However, whether Lsh is involved in the regulation of chromatin-mediated processes during meiosis is not known. Here, we show that Lsh is essential for the completion of meiosis and transcriptional repression of repetitive elements in the female gonad. Oocytes from Lsh knockout mice exhibit demethylation of transposable elements and tandem repeats at pericentric heterochromatin, as well as incomplete chromosome synapsis associated with persistent RAD51 foci and gammaH2AX phosphorylation. Failure to load crossover-associated foci results in the generation of non-exchange chromosomes. The severe oocyte loss observed and lack of ovarian follicle formation, together with the patterns of Lsh nuclear compartmentalization in the germ line, demonstrate that Lsh has a critical and previously unidentified role in epigenetic gene silencing and maintenance of genomic stability during female meiosis.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Nov. 29, 2006, 10:04 a.m. by: hsueh   email:
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last update: Nov. 29, 2006, 10:06 a.m. by: hsueh    email:



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