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Sanofi and the University of Bordeaux collaborate on Muscle
Sanofi and the University of Bordeaux collaborate on Muscle

... Paris and Bordeaux – February 16th, 2016 - Sanofi and the University of Bordeaux announced today that they have entered into a research collaboration with the aim of identifying compounds that may improve mitochondrial function in age-related loss of muscle strength. Mitochondria (1) provide most of ...
Nucleus and Mitochondria: structure and disease
Nucleus and Mitochondria: structure and disease

... replaceable by nuclear genes, so they are essential for functioning of mitochondria. Mitochondria contain several copies of their genome probably to protect the integrity of their genome. The rate of DNA mutations and deletions is higher in mitochondria due to electron transport chain and less robus ...
1 Summary
1 Summary

... origin in the nascent eukaryotic cell points to the central role of energetic and genetic revolution following the acquisition of mitochondria (Lane, 2011; Garg and Martin, 2016). Housing two genomes of distinct origin within the same cell had immense repercussions for the further evolution of compl ...
Mitochondriontoplastid DNA transfer: it happens
Mitochondriontoplastid DNA transfer: it happens

... the plastid or how it integrated into the plastid genome, be it by retrotransposition, homologous recombination, or some other process. The complete plastid genome sequences of D. carota and A. syriaca were both available for some time before the proposed mtDNA insert was discovered, hinting that th ...
Multifactorial Traits - Study materials & Discussion
Multifactorial Traits - Study materials & Discussion

... • The further you go back in time, the more proteins (and DNA) are different. • Differences in protein sequences and DNA can be used to estimate time when two species shared a common ancestor ...
8 MITOCHONDRIAL INHERITANCE — Complex Patterns of
8 MITOCHONDRIAL INHERITANCE — Complex Patterns of

... The sperm contributes very few mitochondria to the baby. An individual’s mitochondria are generally only inherited from his or her mother. A variation (mutation) in one of the mitochondrial genes that makes it faulty, can therefore be passed by the mother to a child in her egg cells This pattern of ...
MITOCHONDRIAL INHERITANCE
MITOCHONDRIAL INHERITANCE

... • All of these mitochondria, and therefore the DNA within the mitochondria, descend from the small number of mitochondria present in the original egg cell at the time of that person’s conception • The sperm contributes very few mitochondria to the baby An individual’s mitochondria are generally on ...
DmTTF, a novel mitochondrial transcription termination factor that
DmTTF, a novel mitochondrial transcription termination factor that

... termination factor. FlyBase GadFly Genome Annotation Database reports that the DmTTF gene is 1587 bp long; it is composed of three exons and two introns and generates a transcript of 1468 nt. The cDNA of DmTTF was cloned by means of PCR on a cDNA library of D.melanogaster. The sequence of the ORF (a ...
AMPK_PhD
AMPK_PhD

... MELAS – mitochondrial encephalopathy, lactic acidosis and stroke-like episodes; MILS – maternally inherited Leigh syndrome; LHON – Leber's hereditary optic neuropathy (Leber's disease); NARP – neurogenic weakness ataxia and retinitis pigmentosa. Complex II are rarely affected (Rossignol et al. ...
Inheritance of Organelle DNA Sequences in a Citrus–Poncirus
Inheritance of Organelle DNA Sequences in a Citrus–Poncirus

... correspondence to C. D. Chase at the address above or e-mail: [email protected].  2002 The American Genetic Association 93:174–178 ...
Mitochondrial point mutations do not limit the natural lifespan of mice
Mitochondrial point mutations do not limit the natural lifespan of mice

... an allelic substitution in the exonuclease domain of Polg. This substitution abolishes the proofreading activity of Polg, causing it to be error prone. We3 and others22 have recently demonstrated that mice homozygous for this substitution (Polgmut/mut) show a marked reduction in lifespan and several ...
Andrews 1999 Corrected CRS.NatGen
Andrews 1999 Corrected CRS.NatGen

... © 1999 Nature America Inc. • http://genetics.nature.com ...
Mendelian Inheritance
Mendelian Inheritance

... advances: The first advance was the discovery that mitochondria are essential for energy production in the cell; they are the "power plant" for eukaryotic cells. The second advance was the finding that mitochondria contain their own genome; each contains multiple copies (two to 10 copies) of a 16,56 ...
Mendelian Inheritance
Mendelian Inheritance

... advances: The first advance was the discovery that mitochondria are essential for energy production in the cell; they are the "power plant" for eukaryotic cells. The second advance was the finding that mitochondria contain their own genome; each contains multiple copies (two to 10 copies) of a 16,56 ...
Chapter 6: Extranuclear Inheritance, Imprinting, and Maternal Effect
Chapter 6: Extranuclear Inheritance, Imprinting, and Maternal Effect

... As with chloroplasts, mitochondria have their own genetic material, and their pattern of transmission is non-Mendelian. In this section, we will examine the nature of the mitochondrial genome, and how mitochondria are transmitted from parents to offspring. Note that the genetic material of the mitoc ...
How to determine whether a strain will undergo senescence.  Background
How to determine whether a strain will undergo senescence. Background

... Occasional outcrossing can purge the genome of the accumulated defective genes, but in the absence of genetic recombination, deleterious mutations are expected ultimately to result in death of a serially propogated normal culture. Exceptions are known, however, where the potential for unlimited grow ...
Malattie XL, YL e Mitocondriali
Malattie XL, YL e Mitocondriali

... Simplified Tree of Mitochondrial Haplogroups ...
Lecture Notes with Key Figures PowerPoint® Presentation for
Lecture Notes with Key Figures PowerPoint® Presentation for

... – “Ragged-red” skeletal muscle fibers (Figure 9-9) ...
Summary - WordPress.com
Summary - WordPress.com

... Parkinson’s disease is caused by the loss of dopaminergic neurons within the substantia nigra of the brain linked to declines in mitochondrial function. Protection of mitochondrial integrity is ensured by the PINK1-Parkin pathway which is present in both, Drosophila and human. This pathway contains ...
Chapter 21 Extranuclear genes
Chapter 21 Extranuclear genes

... tRNA, rRNAs, some proteins: ~ mitochondrial protein synthesis (some genes are still encoded in nucleus) mRNA is translated outside the mitochondria on cytosolic ribosomes Synthesized proteins are transported into the mitochondria Complete system is assemble in mitochondrial inner membrane ...
MitoP2, an integrated database on mitochondrial proteins in yeast
MitoP2, an integrated database on mitochondrial proteins in yeast

... and CYGD (20) were screened manually in the original literature for direct evidence in single experiments. Entries with only indirect evidence were excluded to reduce annotation errors (21). Results from high-throughput experiments are listed separately. The reference set of 477 mitochondrial protei ...
Endosymbiosis Theory
Endosymbiosis Theory

... The idea is as follows. The sequences of a relatively conserved gene from nuclear, mitochondrial and chloroplast genomes of representative organisms of bacteria, archaea and eukarya are aligned and a universal phylogenetic tree is constructed. If the mitochondria and chloroplasts are originated from ...
Expression of the Mitochondrial ATPase6 Gene and Tfam in Down
Expression of the Mitochondrial ATPase6 Gene and Tfam in Down

... trisomic fetuses in older women, but recently there have been suggestions that it is due to meiotic error caused by the aging of oocytes. However, the exact mechanism has not yet been determined. The incidence of Down syndrome increases dramatically in children born to women 35 years of age and over ...
chapter_13b
chapter_13b

... Transcription is signaled by non-tRNA sequences Introns occur (do not occur in animal mtDNA) Some lack a complete stop codon (3’ end is U or UA; poly (A) tail completes the stop codon) ...
Document
Document

... Transcription is signaled by non-tRNA sequences Introns occur (do not occur in animal mtDNA) Some lack a complete stop codon (3’ end is U or UA; poly (A) tail completes the stop codon) ...
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Human mitochondrial genetics



Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA (the DNA contained in human mitochondria). The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the ""powerhouses"" of the cell.Mitochondrial DNA (mtDNA) is not transmitted through nuclear DNA (nDNA). In humans, as in most multicellular organisms, mitochondrial DNA is inherited only from the mother's ovum. There are theories, however, that paternal mtDNA transmission in humans can occur under certain circumstances.Mitochondrial inheritance is therefore non-Mendelian, as Mendelian inheritance presumes that half the genetic material of a fertilized egg (zygote) derives from each parent.Eighty percent of mitochondrial DNA codes for mitochondrial RNA, and therefore most mitochondrial DNA mutations lead to functional problems, which may be manifested as muscle disorders (myopathies).Because they provide 30 molecules of ATP per glucose molecule in contrast to the 2 ATP molecules produced by glycolysis, mitochondria are essential to all higher organisms for sustaining life. The mitochondrial diseases are genetic disorders carried in mitochondrial DNA, or nuclear DNA coding for mitochondrial components. Slight problems with any one of the numerous enzymes used by the mitochondria can be devastating to the cell, and in turn, to the organism.
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