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HPMR

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heat shock 70kDa protein 4-like OKDB#: 5174
 Symbols: HSPA4L Species: human
 Synonyms: APG-1, HSPH3, Osp94  Locus: 4q28 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: Entrez Gene
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R-L INTERACTIONS   MGI

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link to BioGPS
General Comment
General function
Comment
Cellular localization
Comment
Ovarian function
Comment
Expression regulated by
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Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 1 mutations

Species: human
Mutation name:
type: naturally occurring
fertility: subfertile
Comment: Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos. McCoy RC et al. (2015) Aneuploidy, the inheritance of an atypical chromosome complement, is common in early human development and is the primary cause of pregnancy loss. By screening day-3 embryos during in vitro fertilization cycles, we identified an association between aneuploidy of putative mitotic origin and linked genetic variants on chromosome 4 of maternal genomes. This associated region contains a candidate gene, Polo-like kinase 4 (PLK4), that plays a well-characterized role in centriole duplication and has the ability to alter mitotic fidelity upon minor dysregulation. Mothers with the high-risk genotypes contributed fewer embryos for testing at day 5, suggesting that their embryos are less likely to survive to blastocyst formation. The associated region coincides with a signature of a selective sweep in ancient humans, suggesting that the causal variant was either the target of selection or hitchhiked to substantial frequency.//////////////////

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created: April 13, 2015, 10:46 a.m. by: system   email:
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last update: April 13, 2015, 10:46 a.m. by: hsueh    email:



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