Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites

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Pathogenic Mechanisms in the Non-Coding Genome

para 2 Pathogenic Mechanisms in the Non-Coding Genome layout 1

1. Promoters: Creation of De Novo Binding Sites

para 2 Pathogenic Mechanisms in the Non-Coding Genome layout 2

TERT Promoter in Melanoma:

para 2 Pathogenic Mechanisms in the Non-Coding Genome layout 3

PAX8 in Ovarian Cancer

para 2 Pathogenic Mechanisms in the Non-Coding Genome layout 4

2. Enhancers: Altering Gene Dosage and 3D Looping

para 2 Pathogenic Mechanisms in the Non-Coding Genome layout 5

Pierre Robin Sequence (PRS

para 2 Pathogenic Mechanisms in the Non-Coding Genome layout 6

TAL1 Super-enhancer in T-ALL:

para 2 Pathogenic Mechanisms in the Non-Coding Genome layout 7

ZRS Enhancer and Polydactyly:

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites layout 1

TERT Promoter in Melanoma:

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites layout 2

PAX8 in Ovarian Cancer

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites questions 1

what are promoters

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites questions 2

where are they located

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites questions 3

what do they do

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites questions 4

what mechanism in promoters

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites questions 5

what is the mechanisms

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites questions what are promoters

DNA sequences

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites questions where are they located

at the 5' end of a gene

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites questions what do they do

define where transcription begins.

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites questions what mechanism in promoters

A primary pathogenic mechanism

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites questions what is the mechanisms

the creation of novel transcription factor (TF) binding sites.

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites full question 1

Promoters are DNA sequences located at the 5' end of a gene that define where transcription begins.

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites full question 2

A primary pathogenic mechanism in promoters is the creation of novel transcription factor (TF) binding sites.

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: layout 1

what are these

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: layout 2

where are they located

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: layout 3

what do they create

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: layout 4

what does this lead to

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: layout 5

what does this provide cancer cells

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: layout 6

how does it provide this

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: what are these

Highly recurrent somatic and germline mutations

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: where are they located

in the core promoter of the TERT oncogene

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: what do they create

de novo Ets/TCF binding motifs.

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: what does this lead to

increased TERT expression,

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: what does this provide cancer cells

with limitless replicative potential

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: how does it provide this

by maintaining telomere ends.

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: full sentence 1

Highly recurrent somatic and germline mutations in the core promoter of the TERT oncogene create de novo Ets/TCF binding motifs.

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites TERT Promoter in Melanoma: full sentence 2

This leads to increased TERT expression, providing cancer cells with limitless replicative potential by maintaining telomere ends.

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites PAX8 in Ovarian Cancer layout 1

in what kind of cancer

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites PAX8 in Ovarian Cancer layout 2

what kind of mutations

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites PAX8 in Ovarian Cancer layout 3

what do they coverge on

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites PAX8 in Ovarian Cancer layout 4

what do they drive

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites PAX8 in Ovarian Cancer layout 5

what do they activate

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites PAX8 in Ovarian Cancer in what kind of cancer

In High-Grade Serous Ovarian Cancer (HGSOC),

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites PAX8 in Ovarian Cancer what kind of mutations

somatic mutations

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites PAX8 in Ovarian Cancer what do they coverge on

PAX8 regulatory elements,

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites PAX8 in Ovarian Cancer what do they drive

overexpression of this tissue-specific TF

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites PAX8 in Ovarian Cancer what do they activate

oncogenic expression programs.

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites PAX8 in Ovarian Cancer full sentence 1

In High-Grade Serous Ovarian Cancer (HGSOC), somatic mutations converge on PAX8 regulatory elements,

para 2 Pathogenic Mechanisms in the Non-Coding Genome 1. Promoters: Creation of De Novo Binding Sites PAX8 in Ovarian Cancer full sentence 2

driving the overexpression of this tissue-specific TF and activating oncogenic expression programs