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Navigating the non-coding genome in heart development and Congenital Heart Disease

Chahal, Gulrez, Tyagi, Sonika, Ramialison, Mirana·2019·Differentiation
DOI 10.1016/j.diff.2019.05.001
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Crossref · 10.1016/j.diff.2019.05.001

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  • The origin of congenital heart disease is unknown in 80% of cases.

    “the origin of CHD is unknown in 80% of the cases, suggesting that several determinants of heart disease, including genetic, are yet to be identified [3].”

    From A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease (2021) · cites this paper as [3]

    The Introduction says the cause remained unknown for some familial CHD cohorts and that the majority of patients with familial CHD lack a genetic diagnosis. It does not say that the origin is unknown in 80% of all CHD cases; the cited figures concern familial cohorts, not all cases. (LLM, conf=0.85)

    Experimental — accuracy not yet measured

  • The function of most CREs is unknown.

    “The function of most CREs is unknown; however, there is mounting evidence that sequence mutations in cardiac CREs are associated with congenital heart disease [2, 3].”

    From A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease (2021) · cites this paper as [3]

    Section 2.6 (page unavailable) says putative cREs need functional validation and that key non-coding elements implicated in congenital heart disease remain unknown. This supports uncertainty about cardiac cREs in that context, but does not establish that the function of most cREs generally is unknown. (LLM, conf=0.82)

    Experimental — accuracy not yet measured

  • Promoters located close to the TSS are associated with core transcriptional functions, while distally located CREs are associated with tissue-specific functions.

    “Promoters located close to the TSS are associated with core transcriptional functions [24], while distally located CREs are associated with tissue-specific functions [3].”

    From A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease (2021) · cites this paper as [3]

  • Sequence mutations in cardiac CREs are associated with congenital heart disease.

    “The function of most CREs is unknown; however, there is mounting evidence that sequence mutations in cardiac CREs are associated with congenital heart disease [2, 3].”

    From A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease (2021) · cites this paper as [3]

  • The identified modules recapitulate known modules of the cardiac GRN: the heart development node corresponds to the known kernel of cardiac transcription factors, and other modules correspond to known downstream gene batteries.

    “These modules recapitulate known modules of the cardiac GRN: the “heart development” node corresponds to the known kernel of cardiac transcription factors [2]. Other modules such as “muscle gene battery,” “angiogenesis,” “cell cycle and cytoskeleton,” and “mitochondrial genes” modules correspond to known downstream gene batteries of the cardiac GRN [3].”

    From A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease (2021) · cites this paper as [3]

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Metadata

Authors
Chahal, G., Tyagi, S., & Ramialison, M.
Venue
Differentiation
Publisher
Elsevier BV
Published
2019-05
Volume
107
Pages
11-23
ISSN
0301-4681
DOI
10.1016/j.diff.2019.05.001
Cited by
31
References
13
Language
en
Licence
Funders
  • Rotary Global Grant, Rotary Foundation International (GG1637399)
  • AGRF
  • NHMRC (1049980)
  • State Government of Victoria
  • Australian Government

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