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HPMR

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SMAD family member 9 OKDB#: 1400
 Symbols: SMAD9 Species: human
 Synonyms: PPH2, MADH6, MADH9, SMAD8, SMAD8A, SMAD8B, SMAD8/9  Locus: 13q13.3 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment 'Mothers against decapentaplegic'-related proteins (MADRs) are intracellular components that play critical roles in signal transduction pathways involving the transforming growth factor-beta superfamily.

NCBI Summary: The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
General function
Comment
Cellular localization Cytoplasmic, Nuclear
Comment
Ovarian function
Comment A potential role for SMAD9 in goose follicular selection through regulation of mRNA levels of luteinizing hormone receptor. Yu D et al. (2018) The egg production of poultry depends on follicular development and selection. Nonetheless, the mechanism underlying the priority of selecting of hierarchical follicles is completely unknown. SMAD9 is one of the important transcription factors in the BMP/SMAD pathway and is involved in goose follicular initiation. To identify its potential role in determination of the goose follicle hierarchy, we used BMP type I receptor inhibitor LDN-193189 both in vivo and in vitro and found that SMAD9 mRNA expression decreased in the presence of LDN-193189. While the level of SMAD9 mRNA decreased after treatment with LDN-193189, we found that the egg production (7.08 eggs per bird per year) of the animals increased, estradiol (E2) levels significantly increased, but the levels of progesterone (P4) remained unchanged. We also detected a significant increase in luteinizing hormone receptor (LHR) mRNA expression, but no change in follicle-stimulating hormone receptor (FSHR) mRNA amounts. The in vitro experimental results indicated that SMAD9 knockdown by RNA interference noticeably reduced E2 and P4 biosynthesis and FSHR and LHR mRNA expression in goose granulosa cells. Chromatin immunoprecipitation assay of goose granulosa cells revealed that phospho-SMAD9 bound to the LHR promoter and possibly regulated its transcriptional activity. These findings revealed that SMAD9 is differentially expressed in goose follicles, and acts as a key player in the control over goose follicular selection.//////////////////
Expression regulated by
Comment
Ovarian localization
Comment SMAD9 is EXPRESSED IN HEART, BRAIN, PLACENTA, LUNG, SKELETAL MUSCLE, PROSTATE, TESTIS, OVARY AND SMALL INTESTINE.
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: Jan. 16, 2002, 8:43 p.m. by: hsueh   email:
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last update: Dec. 17, 2018, 12:44 p.m. by: hsueh    email:



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