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Related Concept Videos

Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview
Mutations01:39

Mutations

Overview
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Published on: August 24, 2013

MED12 mutations in human diseases.

Hua Wang1, Qin Shen2, Li-Hua Ye1

  • 1Jiangsu Taizhou People's Hospital, Taizhou, 225300, China.

Protein & Cell
|July 10, 2013
PubMed
Summary
This summary is machine-generated.

The Mediator Complex subunit MED12 regulates gene transcription. MED12 gene mutations are linked to developmental disorders and cancers like uterine leiomyomas and prostate cancer.

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Area of Science:

  • Molecular Biology
  • Genetics
  • Cell Biology

Background:

  • The Mediator Complex is crucial for eukaryotic gene transcription.
  • MED12 (Mediator of RNA polymerase II transcription subunit 12 homolog) is a key subunit regulating Mediator Complex activity.
  • MED12 participates in diverse cellular functions.

Purpose of the Study:

  • To review the biological functions of MED12.
  • To explore the association between MED12 gene mutations and human diseases.

Main Methods:

  • Literature review of MED12 functions.
  • Analysis of genetic studies linking MED12 mutations to diseases.

Main Results:

  • MED12 mutations impair its regulatory functions.
  • MED12 gene alterations are implicated in Opitz-Kaveggia syndrome, Lujan syndrome, uterine leiomyomas, and prostate cancer.

Conclusions:

  • MED12 is vital for normal cellular processes.
  • Understanding MED12's role is critical for disease pathogenesis and potential therapeutic strategies.