Mitochondria genome inheritance and features

Some studies have also suggested that frataxin functions as an iron storage molecule, an antioxidant, and a tumor suppressor summary by Schmucker et al. The FXN gene was isolated by this method and called X25 by the authors. It encodes a amino acid protein, termed frataxin.

Human mtDNA consists of 16, nucleotide pairs. The entire molecule is regulated by only one regulatory region which contains the origins of replication of both heavy and light strands. The entire human mitochondrial DNA molecule has been mapped [1] [2]. Genetic code variants[ edit ] The genetic code is, for the most part, universal, with few exceptions: Using these techniques, it is estimated that the first mitochondria arose around 1.

A generally accepted hypothesis is that mitochondria originated as an aerobic prokaryote in a symbiotic relationship within an anaerobic eukaryote. Replication, repair, transcription, and translation[ edit ] Mitochondrial replication is controlled by nuclear genes and is specifically suited to make as many mitochondria as that particular cell needs at the time.

Mitochondrial transcription in humans is initiated from three promotersH1, H2, and L heavy strand 1, heavy strand 2, and light strand promoters. The H2 promoter transcribes almost the entire heavy strand and the L promoter transcribes the entire light strand.

The H1 promoter causes the transcription of the two mitochondrial rRNA molecules. The light strand produces either small transcripts, which can be used as primersor one long transcript.

The requirement of transcription to produce primers links the process of transcription to mtDNA replication. The actual molecular events that are involved in initiation are unknown, but these factors make up the basal transcription machinery and have been shown to function in vitro.

In vitro translations have still not been successful, probably due to the difficulty of isolating sufficient mt mRNA, functional mt rRNA, and possibly because of the complicated changes that the mRNA undergoes before it is translated. Because the two heavy and light strands on the circular mtDNA molecule have different origins of replicationit replicates in a D-loop mode.

One strand begins to replicate first, displacing the other strand. This continues until replication reaches the origin of replication on the other strand, at which point the other strand begins replicating in the opposite direction.

This results in two new mtDNA molecules. Each mitochondrion has several copies of the mtDNA molecule and the number of mtDNA molecules is a limiting factor in mitochondrial fission.

After the mitochondrion has enough mtDNA, membrane area, and membrane proteins, it can undergo fission very similar to that which bacteria use to become two mitochondria.

Evidence suggests that mitochondria can also undergo fusion and exchange in a form of crossover genetic material among each other. Mitochondria sometimes form large matrices in which fusionfissionand protein exchanges are constantly occurring.

These mistakes can be caused by genetic disorders, cancer, and temperature variations. These radicals can damage mtDNA molecules or change them, making it hard for mitochondrial polymerase to replicate them.

Both cases can lead to deletions, rearrangements, and other mutations. Recent evidence has suggested that mitochondria have enzymes that proofread mtDNA and fix mutations that may occur due to free radicals.

It is believed that a DNA recombinase found in mammalian cells is also involved in a repairing recombination process. Deletions and mutations due to free radicals have been associated with the aging process.

It is believed that radicals cause mutations which lead to mutant proteins, which in turn led to more radicals.

Introduction

This process takes many years and is associated with some aging processes involved in oxygen-dependent tissues such as brain, heart, muscle, and kidney. Despite the fact that the loci for some of these mutations have been found on human chromosomes, specific genes and proteins involved have not yet been isolated.

Mitochondria need a certain protein to undergo fission. If this protein generated by the nucleus is not present, the mitochondria grow but they do not divide.

Mitochondrion - Wikipedia

This leads to giant, inefficient mitochondria. Mistakes in chromosomal genes or their products can also affect mitochondrial replication more directly by inhibiting mitochondrial polymerase and can even cause mutations in the mtDNA directly and indirectly.

Indirect mutations are most often caused by radicals created by defective proteins made from nuclear DNA. Mitochondrial disease Contribution of mitochondrial versus nuclear genome[ edit ] In total, the mitochondrion hosts about different types of proteins, but only about 13 of them are coded on the mitochondrial DNA.

Most of the types of proteins are involved in a variety of processes other than ATP production, such as porphyrin synthesis.Replicative Segregation.

A second feature of the mitochondrial genome is the stochastic nature of segregation during mitosis and meiosis. At cell division, the multiple copies of mtDNA in each of the mitochondria in each cell replicate and sort randomly among newly synthesized mitochondria, in stark contrast to the highly predictable and programmed segregation of the 46 nuclear chromosomes.

Frataxin is a nuclear-encoded mitochondrial iron chaperone involved in iron-sulfur biogenesis and heme biosynthesis. Some studies have also suggested that frataxin functions as an iron storage molecule, an antioxidant, and a tumor suppressor (summary by Schmucker et al.

()). Koutnikova et al.

Human mitochondrial genetics - Wikipedia

Jul 05,  · This feature is not available right now. Please try again later. The biological aspect above focused on ancestry and history. But this is not academic detail. The history of a population affects it genome, and its genome . Here are some ways that mitochondrial and chloroplast DNA differ from the DNA found in the nucleus: High copy number.

A mitochondrion or chloroplast has multiple copies of its DNA, and a typical cell has many mitochondria (and, in the case of a plant cell, chloroplasts). Genetics PMP Gene mutation types Duplication of one PMP gene (3 total copies of PMP): Types.

Segmental duplication in gene area. Due to unequal crossing over of chromosomes during meiosis; Trisomy of short arm on chromosome 17 (17p): Mosaic.