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Ovarian Kaleidoscope Database (OKdb)

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HPMR

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mesencephalic astrocyte-derived neurotrophic factor OKDB#: 4520
 Symbols: MANF Species: human
 Synonyms: ARP, ARMET, MGC142148, MGC142150,  Locus: 3p21.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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link to BioGPS
General Comment NCBI Summary: The protein encoded by this gene is localized in the endoplasmic reticulum (ER) and golgi, and is also secreted. Reducing expression of this gene increases susceptibility to ER stress-induced death and promotes cell proliferation. The protein was initially thought to be longer at the N-terminus and to contain an arginine-rich region but transcribed evidence indicates a smaller open reading frame that does not encode the arginine tract. The presence of polymorphisms in the arginine-rich region, including a specific mutation that changes the previously numbered codon 50 from ATG to AGG, have been reported in a variety of solid tumors; however, these polymorphisms were later shown to exist in normal tissues and are thus not tumor-related. [provided by RefSeq]
General function Ligand
Comment
Cellular localization Secreted, Other Membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Oocyte
Comment Altered expression of Armet and Mrlp51 in the oocyte, preimplantation embryo and brain of mice following oocyte in vitro maturation but postnatal brain development and cognitive function are normal. Wang N et al. Despite efforts to recapitulate the follicle environment, oocytes from in vitro maturation (IVM) have poorer developmental potential than those matured in vivo and the effects on the resultant offspring are of concern. The aim of the study was to determine altered gene expressions in oocytes following IVM, and to evaluate the expressions of Armet and Mrpl51 in embryos and brains of fetal/postnatal mice, and the brain development of IVM offspring. An IVM mouse model was established while oocytes matured in vivo were used as the controls. SSH and RT-PCR/western-blot were used to analyze the differential expression of genes/proteins between IVM and the control group. HE staining and water maze were used to assess the histological changes in brain tissue and cognition of the offspring. The rates of fertilization, cleavage, and live-birth were significantly decreased in IVM group. Thirteen genes were up-regulated in IVM oocytes compared to the control, including Armet and Mrpl51. The higher level of Armet in IVM oocytes was retained in brain until newborn mice, which could be related to the up-regulation of Atf6/Xbp1, while Mrpl51 expressed normally in brain of postnatal mice. No significant differences were detected in brain weight, neuronal counts and the cognition in the offspring between the two groups. The present results suggested IVM could affect the pregnancy outcome, and the Armet and Mrpl51 gene/protein expression. The change of Armet could last while the change of Mrpl51 disappeared after birth. However, the brain development of the offspring seemed not be affected by IVM.
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.)
OMIM \ Animal Model
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created: July 13, 2011, 10:16 a.m. by: hsueh   email:
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last update: July 13, 2011, 10:19 a.m. by: hsueh    email:



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