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           Human genetics metabolism


                 Submitted to:

                Dr. Iqbal Hussain

 Submitted by:

                  Natasha Shoukat (9539)


Botany (1st semester) Morning

        Government College University

Human genetic metabolism:

and mendalian randomization: –

of their worldwide and strong effect sizes Shin proposed an example of
inheritance interaction among two genes epistasis and levels of blood metabolites.
samestudy also proposed an example of a Mandelian randomization proposed causation.
Therefore many cases of appear the relation symbols which are enough strong to
one out statically important cases of epistasis and Mendelian randomization


of causative variants in GWAS is a major target. The phenotype which is
intermediate which major effect size as gain from metabolites may be beneficial
to diagram out causative variants of relation with critical to ending point. Inherited
structure of relation with intermediate trait and disorder and end point are same.
After a long time, sequence of exome based on metabolites relation s were
proposed by DEMIRKEN Writer first time proposed a process in the fluid.

utilize microarray genotype data 2118 Organism data. They determined seven
variants genes with respect to the loci of the organism. Glycine was also
previously reported loci were based on 1000 genomes. This complete mapping access
did not importantly strong any relation mark that was not already display
utilizing a complete mapping access to organism’s loci were based on 1000 genomes.
This complete of relation markers utilized exome markers sequence dvariants.
But for some time there small prove that it will help to determined true novel
relation markers. This can be change with major samples numbers.


Unique sequence DNA   include most of the gene   that encode proteins as well as another
chromosomal region

Prokaryotes have unique sequence

Eukaryotes have mi of unique and repetitive

Human genes have sequence which is also unique

Sequence is widely unique occur within

Tandemly sequence is unique 

 sequence is common in eukaryotes which is also

Dispersed sequence is occurred in
families that have characteristic sequence

GWAS with metabolic traits

year ago, proposed a process or a relation could be replicated in the different
cohorts often utilizing various metabolic platforms and few moments and also
various biofluids. In the last two years has been gain a present study by Shin this thing was based on associated quantitatification from liquid.
Chromatography mass in metabolites of samples of blood. The metabolites and
their relative genetic loci vastly cover display of all large metabolic
waysgiving much comprehensive photo.

inherited variants impacts homeostasis in blood metabolism. Major metabolism
size excludes the study Draisma who observed one twenty-nine mostly lipid
associated metabolites in 7478 organisms from seven cohorts of Europe. Determinedthirty-one
gene loci just four gene of these were new born. This study was filter those
pathways of relations of associated lipids traits at already observed loci.

give new locations into metabolism of lipid. One of the other example which is
reported by Rhee who determined a particular pathway in inherited
relations .46 or forty-six triacylglycerol with various length of chain of the
nucleic acid and become unsaturated. Rueedi was presently observed genetically.


relations  of resonance of nuclear
metabolism then metabolic traits which is generally derived in samples of urine
from thirty-five European which is the copy provide for determining in 601
samples from a large group of organisms of Brazilian which have an ethnic past

principle; base pairing to a template strand

Since two strands of DNA are
complementary each strand act as a template for building a new strand in

In DNA replication parent molecule
unwinds and two new daughter strands are built based on base pairing rules.

Short interspersed repeated sequence
with 100 to500 BP SEQUENCE.

Long interspersed sequence with sequence
of 5 kb or more LINE one with sequence.

Relation between structure and function
is manifest in double helix.

example in mammals is.


Synthesizing a   New DNA strand

called DNA polymerases catalyze the elongation of a new DNA at a replication fork.
Most DNA polymerases require a primer and a DNA template strand. The elongation
is about of 500 nucleotides per second in human cells.Each nucleotide that is
added to a growing DNA strand is a nucleotide triphosphate.

of energy suppliesadenine to DNA and is similar to ATP of energy metabolism.
The difference is in their sugars; dATP has deoxyribose while ATP has ribose.
As each monomer of ATP join the DNA strand it loses two phosphate groups as a
molecule pyrophosphate.

Antiparallel elongation

antiparallel   elongation of the double
helix affects replication. DNA polymerases add nucleotides only to the free
three prime ends of growing strand therefore a new strand can elongate only in
the specific direction.

one template strand of DNA polymerase synthesizes a leading strand contiously
moving towards the replication fork. To elongate the other new strand called
lagging strand. DNA polymerase must work in the direction away from replication
fork .The lagging strand is synthesized as a series of segments called okazaki
fragments  which are joined together by
DNA ligase.


GIMs with functional information


A crucial step in the interpretation GWAS results is to put the
identified associations into the context of results from other associationStudies,
including associations of genetic variants to Traits at different phenotype
layers. Most recently published WAS studies, therefore, go beyond the mere
reporting of genetic associates’ by combining their results with additionalbylinking
individual association sin a systems level approach and by adding clinical association
data to establish complex gene-to-disease network. However, collecting and integrating.
Publicly available association data still present a major bottleneck in the
evaluation of mg WAS results, in large part due to Fact that data fromdifferent
sources are reported on different, But highly correlated SNP sets.








Application of GIMS for Hypothesis Generation

For deeper functional research. The great potential of mg WASA
hypothesis geerating tool is demonstrated when rediscover sometimes decades
oldfindings from biochemical. Experiments in the setting of modern genomic and
metabolic studies. One interesting example which a synonymous variant in the
coding region of Alanine-glyoxylic results are more and more use as a starting
hypothesis. Amino transferase several Mg linked variant to this changes in
homeostasis of plasma beta amino isobutyrate symmetric or asymmetric
dimethylarginine. Serum homorginine. Furthermore, SNP rs37369 was associated to
elevated urainary excretion of BAIB. With BAIB concertation>10 times higher
in urine of homozygote for the minor allel. Since is one of substrates it was B
hyposynthesizd that rs37369 is causative for hyper beta amino isobutyric
aciduria a heritable. Trait first described in the early 1950. This mGWAS
generated hypothesis was recently validated by kittel et al., in vitro studies
where the authors demonstrated that the rs37369. Polymorphism results in
significantly lower AGXT2 enzyme activity. When compared with wild type.



Telomerase do not prevent the shortening of DNA molecules but they
do postpone of DNA molecules. The erosion of gene near the ends of DNA molecule.
It has been proposed   that the
shortening of telomeres is connected to the  

If chromosome of germ cells because shorter in every cell cycle
essential genes would eventually

 Be missing from the gametes
they produce. The shortening of telomeres might protect the cells from
cancerous growth by limiting the number of cell divisions. An enzyme  called telomerase catalyze this process.

Human genetic metabolism is a very important metabolism in the
human because it plays very important role in the study of inheritance of human.
Itgives many benefits for determine the different metabolic disorders which
occur in the body of human body and cause different variations in the body of
human. These variations some time become beneficial and some time they cause
different diseases in the metabolism of human body. Some variations are neutral
mean these variations have no benefit r not lose of any type of function in the
body of an organism   which   either  
human r may be any other organism.

The telomers play very important role in the body of the living
organism such as human and other living organism which have a major genetic system.




of non-metabolic trait

Majority of which accounted For 
20–40% of total metabolite  variation.
Remarkably, more than. One-third of the loci that regulate liver metabolites in
mice alsoCorrespond   to human GIMs, supporting the similarity in
geneticRegulation   of metabolites
between mice and humans. Chen et al. conducted an mGWAS in rice, covering 840
metabolites and6.4 million SNPs obtained from 529 diverse accessions of Oryza
Sativa. This study identified hundreds of common variants influencingNumerous
secondary metabolites with large effect sizes. And   reported 36 candidate genes that modulate
levels of metabolites of potential. physiological and nutritional importance.
The authors concluded that mGWAS provide a powerful tool

Identification of non-metabolic trait

Majority   of which accounted for   20–40% of total metabolite   variation. Remarkably, more than One-third
of the loci that regulate liver metabolites in mice also Correspond   to human GIMs, supporting the similarity in genetic
Regulation   of metabolites between mice
and humans. Chen et al. conducted an mGWAS in rice, covering 840 metabolites
and6.4 million SNPs obtained from 529 diverse accessions of Oryza Sativa. This
study identified hundreds of common variants influencing Numerous secondary
metabolites with large effect size.

also occur in the body of living organisms. Transformation play very important
role in the genetics of human because transformission like many other processes
occur in the body of living organism. Transcption and   translation which occur in the body of human.
These processes also play very major role in the body of living organism such
as human being body and many other bodies of living organisms.

processes take place in the body of living organism which are much important in
the system of body which are necessary for the working of the body of living
organisms like human and many other living organisms. Many variations take
place or may occur in the above processes like transformation or translation or
reduction and many other function which are so beneficial and favorable for the
body function of the living organisms.

human genetic metabolism gives much information about the genetic diseases and
also give information about the ratio of human or death of living organisms
death and also provide information about the ratio of living organism ratio.
This information plays very important role in the study of genetic metabolism
and genetises with the help of this information discover many diseases and
treatments if these diseases. And  
reported 36 candidate genes.That modulate levels of metabolites Ofpotential.
physiological and nutritional importance.


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