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Hsueh lab

HPMR

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family with sequence similarity 46, member C OKDB#: 5231
 Symbols: FAM46C Species: human
 Synonyms:  Locus: 1p12 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment Live imaging RNAi screen reveals genes essential for meiosis in mammalian oocytes. Pfender S et al. (2015) During fertilization, an egg and a sperm fuse to form a new embryo. Eggs develop from oocytes in a process called meiosis. Meiosis in human oocytes is highly error-prone, and defective eggs are the leading cause of pregnancy loss and several genetic disorders such as Down's syndrome. Which genes safeguard accurate progression through meiosis is largely unclear. Here we develop high-content phenotypic screening methods for the systematic identification of mammalian meiotic genes. We targeted 774 genes by RNA interference within follicle-enclosed mouse oocytes to block protein expression from an early stage of oocyte development onwards. We then analysed the function of several genes simultaneously by high-resolution imaging of chromosomes and microtubules in live oocytes and scored each oocyte quantitatively for 50 phenotypes, generating a comprehensive resource of meiotic gene function. The screen generated an unprecedented annotated data set of meiotic progression in 2,241 mammalian oocytes, which allowed us to analyse systematically which defects are linked to abnormal chromosome segregation during meiosis, identifying progression into anaphase with misaligned chromosomes as well as defects in spindle organization as risk factors. This study demonstrates how high-content screens can be performed in oocytes, and allows systematic studies of meiosis in mammals.//////////////////

General function
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Cellular localization
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Ovarian function Oocyte maturation
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Expression regulated by
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Ovarian localization Oocyte
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Follicle stages
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Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
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OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: July 8, 2015, 11:26 a.m. by: system   email:
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last update: July 8, 2015, 11:26 a.m. by: hsueh    email:



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