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General Comment |
Writing in Nature, Ansarullah et al.3 identify a previously unknown regulator of β-cells, and outline the mechanism by which this protein can ‘tailor’ expression of the insulin receptor.
First, the authors analysed levels of messenger RNA in mouse cells, to identify genes that were highly expressed specifically in the embryonic pancreas. This revealed an abundantly expressed mRNA encoded by a gene on chromosome 3. The corresponding human gene is named oestrogen-induced gene (EIG121), and the mouse and human proteins are highly evolutionarily conserved.
Ansarullah et al. renamed the protein insulin inhibitory receptor (inceptor), because of its similarities to the insulin and IGF1 receptors. All three receptors span the cell membrane and have similar extracellular domains. But, unlike the insulin and IGF1 receptors, the short cytoplasmic tail of inceptor carries an amino acid sequence known to bind to the assembly polypeptide 2 (AP2) protein complex. AP2 is involved in a process called clathrin-mediated endocytosis, through which molecules and receptors at the cell surface are transported into the cell.
NCBI Summary:
Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
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Mutations |
1 mutations
Species: human
Mutation name:
type: naturally occurring
fertility: subfertile
Comment: Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology. Jaillard S et al. (2016) Ovarian failure (OF) is considered premature if it occurs before the age of 40. This study investigates the genetic aetiology underlying OF in women under the age of 40 years. We conducted an experimental prospective study performing all genome microarrays in 60 patients younger than 40 years presenting an OF revealed by a decrease of circulating Anti-Müllerian Hormone (AMH) and leading to an oocyte donation program. We identified nine significant copy number variations (CNVs) including candidate genes potentially implicated in reproductive function. These genes are principally involved in cell division and chromosome segregation (SYCE1, CLASP1, CENP-A, CDC16), in ciliary development and/or function (RSPH1, KIF24), are linked with known gonadal genes or expressed in female genital tract (CSMD1, SEMA6D, KIAA1324). Our data strengthen the idea that microarrays should be used in combination with karyotype for aetiological assessment of patients with OF. This analysis may have a therapeutic impact as the identification of new molecular actors for gonadal development or ovarian physiology is useful for the prediction of an ovarian reserve decline and makes possible preventive fertility preservation.//////////////////
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