Related Experiment Video
Updated: Jun 16, 2026
09:37
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Menin: the protein behind the MEN1 syndrome
Maria Papaconstantinou1, Bart M Maslikowski, Alicia N Pepper
1Department of Biology, McMaster University, Hamilton, Ontario, Canada.
Advances in Experimental Medicine and Biology
|February 24, 2010
Summary
Menin, the protein encoded by the MEN1 gene, is crucial for multiple endocrine neoplasia Type 1. This tumor suppressor protein interacts with various complexes and plays a role in DNA damage response.
Area of Science:
- * Molecular biology
- * Genetics
- * Biochemistry
Background:
- * Multiple endocrine neoplasia Type 1 (MEN1) is a hereditary disorder characterized by tumors in endocrine glands.
- * The MEN1 gene was cloned in 1997, leading to the identification of its protein product, menin.
- * Menin is a ubiquitously expressed nuclear protein with no known homology to other proteins.
Purpose of the Study:
- * To characterize the menin protein, its interactions, and its role in cellular processes.
- * To investigate the functional significance of MEN1 mutations and conserved regions.
- * To explore menin's potential involvement in the DNA damage response.
Main Methods:
- * Analysis of MEN1 gene mutations and protein domains.
- * Investigation of menin's protein-protein interactions using biochemical assays.
- * Examination of menin's subcellular localization and its role in DNA damage signaling.
Main Results:
- * MEN1 missense mutations are distributed throughout the gene, with higher frequency in conserved regions.
- * Menin interacts with multiple protein complexes, including mSin3A corepressor and histone deacetylase complexes.
- * Nuclear localization signals in the C-terminus of menin are essential for its nuclear import and interaction with the nuclear matrix.
- * Menin is phosphorylated by kinases, including ATM/ATR, suggesting a role in DNA damage response.
- * Menin is highly conserved across species from Drosophila to humans.
Conclusions:
- * Menin is a multifunctional tumor suppressor involved in gene regulation and DNA damage response.
- * Understanding menin's interactions and localization is key to deciphering its role in MEN1 pathogenesis.
- * The conserved nature of menin highlights its fundamental biological importance.
Related Concept Videos
02:19The Y Chromosome Determines Maleness
The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
01:21Overview of Protein Metabolism
Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
03:03mTOR Signaling and Cancer Progression
The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The mTOR pathway or the...
02:23Abnormal Proliferation
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
01:22PI3K/mTOR/AKT Signaling Pathway
The mammalian target of rapamycin (mTOR) is a serine/threonine kinase that regulates growth, proliferation, and cell survival in response to hormones, growth factors, or nutrient availability. This kinase exists in two structurally and functionally distinct forms: mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2). The first form (mTORC1) is composed of a rapamycin-sensitive Raptor and proline-rich Akt substrate, PRAS40. In contrast, mTORC2 consists of a rapamycin-insensitive companion...
01:24Nephrotic Syndrome I : Introduction
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...