Сколько «мусора» в геноме человека?

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How much “junk” do we have in our genome? Alexey A. Kurnosov

Transcript of Сколько «мусора» в геноме человека?

Page 1: Сколько «мусора» в геноме человека?

How much “junk” do we have

in our genome?

Alexey A. Kurnosov

Page 2: Сколько «мусора» в геноме человека?

The genetic information is stored in

the form of DNA

book human genome

volume chromosome

chapter gene

word codon

letter nucleotide

language DNA

genome геном gene ген nucleotide нуклеотид

chromosome хромосома codon кодон DNA ДНК

The human genome is 3.3 billions of nucleotides long

Image from http://elcaminogmi.dnadirect.com/grc/patient-site/array-cgh-for-

developmental-abnormalities/index.html

Page 3: Сколько «мусора» в геноме человека?

C value paradox

There is no correlation between the size of the genome

and the complexity of the organism

Type Species Genome size,

bp

Bacterium Nasuia

deltocephalinicola

112,091

Bacterium Escherichia coli 4,600,000

Plant Arabidopsis thaliana 135,000,000

Plant Paris japonica 150,000,000,000

Fish Tetraodon nigroviridis 385,000,000

Fish Protopterus aethiopicus 130,000,000,000

Mammal Mus musculus (mouse) 2,700,000,000

Mammal Homo sapiens 3,289,000,000

Amoeba Polychaos dubium 670,000,000,000Image from

https://www.mun.ca/biology/scarr/Genome_Size_Variati

on.html

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The genome contents

Image from http://book.bionumbers.org/how-many-

genes-are-in-a-genome/

contents состав protein белок intron интрон

gene ген to code кодировать miscellaneous разнообразный

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The role of the introns

DNA ДНК protein белок intron интрон

RNA РНК splicing сплайсинг (вырезание фрагментов РНК) exon экзон

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1. How long is the human genome

i. 3.3 billions of nucleotides

ii. 3.3 billions of nanometres

iii. 3.3 billions of genes

iv. 6.6 billions of nucleotides

2. Choose the correct statement:

i. Mammals always have larger genomes than fish

ii. Mammals always have smaller genomes than fish

iii. Genome sizes vary greatly within one group of

organisms

iv. Genomes of all organisms have the same size

3. The part of a gene that codes for a

protein is called

i. intron

ii. exon

iii. RNA

iv. LINE

One gene can code for several proteins 4.

due to

transcriptioni.

translationii.

splicingiii.

transpositioniv.

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Is our genome a story or a song?The Old Man and the Sea

He was an old man who fished alone in a skiff in the Gulf Stream and he had gone eighty-four days now without taking a fish. In the first forty days a boy had been with him. But after forty days without a fish the boy’s parents had told him that the old man was now definitely and finally salao, which is the worst form of unlucky, and the boy had gone at their orders in another boat which caught three good fish the first week. It made the boy sad to see the old man come in each day with his skiff empty and he always went down to help him carry either the coiled lines or the gaff and harpoon and the sail that was furled around the mast. The sail was patched with flour sacks and, furled, it looked like the flag of permanent defeat.

The old man was thin and gaunt with deep wrinkles in the back of his neck. The brown blotches of the benevolent skin cancer the sun brings from its reflection on the tropic sea were on his cheeks. The blotches ran well down the sides of his face and his hands had the deep-creased scars from handling heavy fish on the cords. But none of these scars were fresh. They were as old as erosions in a fishless desert.

Be My BabyThe night we met I knew I needed you soAnd if I had the chance I'd never let you go

So won't you say you love meI'll make you so proud of me

We'll make 'em turn their heads every place we go

So won't you, please(Be my, be my baby) Be my little baby

(My one and only baby) Say you'll be my darlin'(Be my, be my baby) Be my baby now

Wha-oh-oh-oh

I'll make you happy, baby, just wait and seeFor every kiss you give me, I'll give you three

Oh, since the day I saw youI have been waiting for you

You know I will adore you 'til eternity

So won't you, please(Be my, be my baby) Be my little baby

(My one and only baby) Say you'll be my darlin'(Be my, be my baby) Be my baby now

Wha-oh-oh-oh-oh

verse куплет chorus припев refrain рефрен (здесь - синоним «куплет»)

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Imagine the refrains were able to

increase in number…

Love, love, love

Love, love, love

Love, love, love

There's nothing you can do that can't be done

Nothing you can sing that can't be sung

Nothing you can say but you can learn how to play the game

It's easy

Nothing you can make that can't be made

No one you can save that can't be saved

Nothing you can do but you can learn how to be you in time

It's easy

All you need is love

All you need is love

All you need is love, love

Love is all you need

Love, love, love

Love, love, love

Love, love, love

All you need is love

All you need is love

All you need is love, love

Love is all you need

Nothing you can know that isn't known

Nothing you can see that isn't shown

Nowhere you can be that isn't where you're meant to be

It's easy

All you need is love

All you need is love

All you need is love, love

Love is all you need

All you need is love (All together, now!)

All you need is love (Everybody!)

All you need is love, love

Love is all you need

Love is all you need (Love is all you need)

Love is all you need (Love is all you need)

Love is all you need (Love is all you need)

Love is all you need (Love is all you need)

Love is all you need (Love is all you need)

Love is all you need (Love is all you need)

Love is all you need (Love is all you need)

Love is all you need (Love is all you need)

Love is all you need (Love is all you need)

Love is all you need (Love is all you need)

Love is all you need (Love is all you need)

Yee-hai! (Love is all you need)

Love is all you need (Love is all you need)

Yesterday (Love is all you need)

Love is all you need (Love is all you need)

Love is all you need (Love is all you need)

Love is all you need (Love is all you need)

Oh yeah! (Love is all you need)

She loves you, yeah yeah yeah (Love is all you need)

She loves you, yeah yeah yeah (Love is all you need)

verse куплет chorus припев refrain рефрен (здесь - синоним «куплет»)

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Imagine they could increase in number by

the copy-and-paste mechanism

Love, love, love

Love, love, love

Love, love, love

There's nothing you can do that can't be done

Nothing you can sing that can't be sung

Nothing you can say but you can learn how to play the game

It's easy

Nothing you can make that can't be made

No one you can save that can't be saved

Nothing you can do but you can learn how to be you in time

It's easy

All you need is love

All you need is love

All you need is love, love

Love is all you need

Nothing you can know that isn't known

Nothing you can see that isn't shown

Nowhere you can be that isn't where you're meant to be

It's easy

Love is all you need (Love is all you need)

Yee-hai! Oh yeah! (Love is all you need)

She loves you, yeah yeah yeah (Love is all you need)

She loves you, yeah yeah yeah (Love is all you need)

copy-and-paste копирование-вставка chorus/refrain куплет, рефрен

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And even insert into other verses or

refrains

Love, love, love

Love, love, love

Love, love, love

There's nothing you can do that All you need is love

All you need is love

All you need is love, love

Love is all you need can't be done

Nothing you can sing that can't be sung

Nothing you can say but you can learn how to play the game

It's easy

Nothing you can make that can't be made

No one you can save that can't be saved

Nothing you can do but you can learn how to be you in time

It's easy

All you need is love

All you need is love

All you need is love

All you need is love

All you need is love, love

Love is all you need

All you need is love, love

Love is all you need

Nothing you can know that isn't known

Nothing you can see that isn't shown

Nowhere you can be that Love is all you need (Love is all you need) isn't where you're meant

to be

It's easy

Love is all you need (Love is all you need)

Love is all you need (Love is all you need)

Yee-hai! Oh yeah! (Love is all you need)

She loves you, yeah yeah yeah (Love is all you need)

She loves you, yeah yeah yeah (Love is all you need)

copy-and-paste копирование-вставка to insert вставлять

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Retroelements increase in number by

the copy-and-paste mechanism

retroelement/retrotransposon ретроэлемент (геномный элемент, способный размножаться по механизму копирования-вставки)

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Retroviruses use a similar mechanism

Image from http://visual-

science.com/projects/hiv/illustrations

Image from Laskey, 2014

retrovirus ретровирус HIV ВИЧ

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“Junk” DNA

A large portion of our genome looks like a cemetery for

old retroelements

junk рухлядь, мусор SINE класс ретроэлементов cemetery кладбище

LINE класс ретроэлементов LTR класс ретроэлементов

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“Selfish” DNA – the genomic

“parasites”

Our genome is a “habitat” for the genomic “parasites”.

A mutation is beneficial for the “parasite” if

It doesn't harm the organism

It increases the probability of the parasite preservation in genome

selfish эгоистичный habitat среда обитания preservation сохранение

parasite паразит harm вред

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Retroelements evolve in our genome

Most families of retroelements in our genome are “dead”.

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1. Retroelements can increase in number by

the

i. cut-and-paste-mechanism

ii. copy-and-paste-mechanism

iii. recombination

iv. translation

2. Most retroelements of the human

genome are

i. highly active

ii. “dead”

iii. removed from the genome

iv. LTRs

The DNA that has no particular function 3.

is often called

symbiotici.

retardedii.

uselessiii.

junkiv.

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“Altruistic” DNA – the DNA bodyguards

Non-coding DNA can defend the genes from mutagens

bodyguard телохранитель free radical свободный радикал

non-coding некодирующий defend защищать

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Some of our retroelements are

domesticated retroviruses…

… same as dogs are domesticated wolves

exogenous – noendogenous – yes

exogenous – yesendogenous – no

exogenous – yesendogenous – no

exogenous – noendogenous – yes exogenous – no

endogenous – yes

Image from van der Kuyl, 2012

domesticate одомашнивать exogenous экзогенный endogenous эндогенный

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How to use an old retovirus?

… Why not to use it in placenta formation?

Stoye & Coffin, 2000

placenta плацента protein белок

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1. Retroelements can possibly protect the

cell genome from

i. bacteria

ii. moral decay

iii. mutagens

iv. flu virus

2. Some human retroelements are relatives

of the

i. flu virus

ii. HIV

iii. tuberculosis

iv. common cold virus

Some proteins coded by an endogenous 3.

retrovirus are used for

placenta formationi.

brain developmentii.

immune system developmentiii.

regulation iv. of sleep

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