This document discusses the human mitochondrial genome. It notes that mitochondria contain their own small genome, separate from the nuclear genome, that encodes 37 genes. It describes the publication of the sequence of the human mitochondrial genome in 1981, noting features like its compact size and lack of repair mechanisms. The document also discusses the D-loop region of mtDNA, which contains transcription promoters and hypervariable regions used in human population genetics studies. It explains that mitochondrial DNA is only inherited maternally, unlike nuclear DNA which is a mixture of both parents'.

1. PRESENTED BY :-
Payal Chaudhari
M.sc Sem 1(botany)
Paper : CBO-403
Department of Life
Sciences,H.N.G.U
PATAN

2. Introducation:The mitochondrion and
its genome.
The human mitochondrial genome.
The D-loop and human population
genetics.
Mitocondrial DNA and Recent
human history.
Beyond anthropology.
Summary.
References.

3.  Every eukaryotic cell contains at least one
copy of the entire nuclear genome housed in its
nucleus.
 In contrast, every cell contains as many as
several thousand mitochondria. This organelle
has been found to play a central role in
numerous cellular functions such as
metabolism(oxidative phosphorylation),
apoptosis, and aging .

4.  The origin of mitochondria from a bacterial
symbiont is commonly accepted but, since the
discovery in the mid-1960’s that mitochondria
contain their own genome ,several questions
have gone unanswered.
 Among this questions are why eukaryotic cells
would tolerate more than one genome and why
mitochondrial genome of eukaryotes has shed
many but not all of its genes and has done so
to a which it point at which it no longer
contains sufficient indigenous information for
replication and expression.

5.  Regardless of which view of the origin of the
mitochondria is correct, one things is common
to both views.
 The majority of the mitochondrial genes that
existed in the symbiont genome of the proto-
eubacterium have been transferred to the
nuclear genome.
 In Animal ,mtDNA is usually small(15 to
20kb) and encodes 37 genes.
 In 1981 Anderson et al. published the sequence
and organization of the human mitochondrial
genome.

6.  Publication of the human mtDNA sequence by
Anderson et al. unveiled a number of surprising
feature.
 The mitochondrial genome is as compact as
any genome ever seen.
 Genes are packed in with little or on intergenic
non-coding sequences and the genes themselves
lack many of the traits normally expected in
eukaryotic genes.

7.  Mitochondria appear to lack an efficient DNA
repair mechanism as well as protective
proteins such as histones.
 Moreover ,mitochondrial DNA is physically
associated with the inner mitochondrial
membrane where highly mutagenic oxygen
radicals are generated.
 As a consequence of these features, the mtDNA
has a much higher mutation rate than does
nuclear DNA..
 As a result, mtDNA is involved in several
hereditary human diseases.

8.  While the vast majority of the mitochondrial
genome is under the scrutiny of selection
because mutations in these areas are usually
deleterious, there is a region in which there are
no coding sequences and mutation are free to
accumulate at will.
 This region is in the mitochondrial D-loop.
 The D-loop is the location of mitochondrial
transcription promoters.

9.  mtDNA replication begins in the D-loop
resulting in the formation of a displacement
loop with a newly synthesized heavy, or H,
strand of about 700nt known as 75 DNA.
 Both strands of the mtDNA are completely
transcribed from the promoters in the D-loop.
 In addition to the promoter sequences, there
are two small regions known as the hyper
variable regions I and iii(HIV and HVLL).
 Mutation rates in HIV and HVII are especially
high on average and there is evidence that the
rates very within the regions as well.

10.  Mitochondrial DNA is unique, it is only passed
on from your mother and it is passed on intact.
 By contrast ,your nuclear DNA is a mixture of
the nuclear DNA of your father and the nuclear
DNA of your mother.
 That is, you inherit one-half of your genes
from each of your parents.
 During meiosis , the process of sperm of sperm
and egg formation, one-half of the genes in
your parents nuclear DNA are left behind.

11.  Before it is halved , however ,there is a great
deal of mixing of DNA that occurs.
 This is called recombination and it is the
reason why we don’t all look alike.
 Your mtDNA is free of this mixing. your
mtDNA is exactly the same as your mother’s
,which is exactly the same as her mother’s,
which is exactly the same as her mother’s, and
so on.

12.  We have focused on the relationship between
archeology and molecular biology but there is
mitochondrial DNA in all animal and plants
and this DNA can be extracted and used to
answer many historical questions.
 Sica et al. extracted mtDNA from five equine
skeletons found in the excavation of
pomplii(A.D. 79).
 They were able to demonstrate that only two
of those skeletons were actually horses.

13.  When the sequence of the human mitochondrial
genome was published in 1981,a companion
piece in Nature by Borst and Grivell carried
the title “small is beautiful…”
 Given that there are hundreds, of maybe
thousands, of nuclear genes that are larger
than human mtDNA and the that mtDNA from
mammals in general has proved to be of great,
and increasing, importance, that excusable
hyperbole in 1981 is as appropriate today as it
was than.

14.  Boore JL. (1999) Animal mitochondrial genome
. Nucleic Acids Res,27:1767-1780.
 Margulies l. (1971) the origin of plant and
animal cells. Am Sci,59:230-235.
 http://www.mitomap.org
 http:// www.jpac.pacom.mil/mtDNA.htm