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TIA1 cytotoxic granule associated RNA binding protein like 1 OKDB#: 1171
 Symbols: TIAL1 Species: human
 Synonyms: TCBP, TIAR  Locus: 10q26.11 in Homo sapiens


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General Comment By screening a human phytohemagglutinin-activated T-cell cDNA library with a TIA1 cDNA, Kawakami et al. (1992) cloned a cDNA encoding TIA1-related protein (TIAR). Both TIAR and TIA1 are members of a family of RNA-binding proteins containing 3 RNA-binding domains and a C-terminal auxiliary domain. Like TIA1, TIAR possesses a lysosome-targeting motif in its C-terminal auxiliary domain, suggesting that TIAR is also a cytotoxic granule-associated protein. The authors demonstrated that TIAR binds specifically to poly(A) homopolymers, fragments DNA in permeabilized target cells, and is expressed in a wide variety of hematopoietic and nonhematopoietic cell types.

NCBI Summary: The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008]
General function Cell proliferation
Comment
Cellular localization Cytoplasmic
Comment candidate123
Ovarian function Germ cell development, Germ cell migration
Comment
Expression regulated by
Comment
Ovarian localization
Comment A primate perspective on oocytes and transgenerational PCOS. Dumesic DA et al. (2020) 'Androgenized' rodent models are widely used to explore the pathophysiology underlying human polycystic ovary syndrome (PCOS), including reproductive and metabolic dysfunction. Based on a recent study using a dihydrotestosterone (DHT)-treated murine model, it has been proposed that prenatal androgen excess alone can predispose to transgenerational transmission of PCOS. From RNA sequencing analysis of metaphase II (MII) oocytes of androgenized lineages, the authors speculated that oocyte factors, including up-regulation of cytotoxic granulosa-associated RNA binding protein-like 1 (TiaL1), are sufficient to promote disease transfer across generations. Although this is an intriguing concept, it was not considered in the context of earlier publications in which the transcriptomes of human MII oocytes from PCOS women undergoing IVF were compared with women without PCOS. In one of these papers, a number of differentially expressed genes in PCOS MII oocytes (TIAL1 was not differentially expressed) were found to have putative response elements in their promoters for androgen receptors and peroxisome proliferating receptor gamma, providing a mechanism for how excess androgens and/or metabolic defects associated with PCOS might affect female germ cells.//////////////////
Follicle stages
Comment
Phenotypes PCO (polycystic ovarian syndrome)
Mutations 2 mutations

Species: mouse
Mutation name: None
type: null mutation
fertility: infertile - ovarian defect
Comment: Beck AR et al 1998 reported that RNA-binding protein TIAR is essential for primordial germ cell development. Primordial germ cells (PGCs) give rise to both eggs and sperm via complex maturational processes that require both cell migration and proliferation. However, little is known about the genes controlling gamete formation during the early stages of PGC development. The authors report that mutant mice lacking TIAR, an RNA recognition motif/ribonucleoprotein-type RNA-binding protein highly expressed in PGCs, fail to develop spermatogonia or oogonia. This developmental defect is a consequence of reduced survival of PGCs that migrate to the genital ridge around embryonic day 11.5 (E11.5). The numbers of PGCs populating the genital ridge in TIAR-deficient embryos are severely reduced compared to wild-type embryos by E11.5 and in the mutants PGCs are completely absent at E13.5. Furthermore, TIAR-deficient embryonic stem cells do not proliferate in the absence of exogenous leukemia inhibitory factor in an in vitro methylcellulose culture assay, supporting a role for TIAR in regulating cell proliferation. Because the development of PGCs relies on the action of several growth factors, these results are consistent with a role for TIAR in the expression of a survival factor or survival factor receptor that is essential for PGC development. TIAR-deficient mice thus provide a model system to study molecular mechanisms of PGC development and possibly the basis for some forms of idiopathic infertility.

Species: human
Mutation name:
type: naturally occurring
fertility: subfertile
Comment: Prenatal androgen exposure and transgenerational susceptibility to polycystic ovary syndrome. Risal S et al. (2019) How obesity and elevated androgen levels in women with polycystic ovary syndrome (PCOS) affect their offspring is unclear. In a Swedish nationwide register-based cohort and a clinical case-control study from Chile, we found that daughters of mothers with PCOS were more likely to be diagnosed with PCOS. Furthermore, female mice (F0) with PCOS-like traits induced by late-gestation injection of dihydrotestosterone, with and without obesity, produced female F1-F3 offspring with PCOS-like reproductive and metabolic phenotypes. Sequencing of single metaphase II oocytes from F1-F3 offspring revealed common and unique altered gene expression across all generations. Notably, four genes were also differentially expressed in serum samples from daughters in the case-control study and unrelated women with PCOS. Our findings provide evidence of transgenerational effects in female offspring of mothers with PCOS and identify possible candidate genes for the prediction of a PCOS phenotype in future generations. expression of TIAL1 was significantly upregulated in the serum of women with PCOS (unrelated and daughters), in the adipose tissue of women with PCOS28 and in the MII oocytes of the androgenized lineage.//////////////////

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Links
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created: May 27, 2001, 3:22 p.m. by: hsueh   email:
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last update: April 28, 2020, 9:44 a.m. by: hsueh    email:



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