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Mechanisms of Heart and Major Vessel...

Kostiuk, Valentyna,

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Mechanisms of Heart and Major Vessel Development: Nup107 and Cacna1g As Novel Regulators /

Record Type:	Electronic resources : Monograph/item
Title/Author:	Mechanisms of Heart and Major Vessel Development: Nup107 and Cacna1g As Novel Regulators // Valentyna Kostiuk.
Author:	Kostiuk, Valentyna,
Description:	1 electronic resource (121 pages)
Notes:	Source: Dissertations Abstracts International, Volume: 86-12, Section: B.
Contained By:	Dissertations Abstracts International86-12B.
Subject:	Developmental biology. -
Online resource:	https://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=31770321
ISBN:	9798286444045

Mechanisms of Heart and Major Vessel Development: Nup107 and Cacna1g As Novel Regulators /
Kostiuk, Valentyna,

Mechanisms of Heart and Major Vessel Development: Nup107 and Cacna1g As Novel Regulators /Valentyna Kostiuk. - 1 electronic resource (121 pages)

Source: Dissertations Abstracts International, Volume: 86-12, Section: B.

Congenital Heart Disease (CHD) is the most common congenital malformation and a leading cause of infant mortality. While advances in genomic sequencing technology have enabled a fast and inexpensive candidate gene identification, the molecular mechanisms of CHD remain mostly unknown. Both nup107 and cacna1g are novel CHD genes identified in CHD patients with no plausible mechanisms explaining their roles in cardiac development. Here, we show that nup107 plays a key role in early embryonic patterning and subsequent organ development. The loss of Nup107 has a direct impact on germ layer specification, Left-Right patterning and downstream cardiac looping. Specifically, Nup107 depletion affects multiple developmental events by regulating the key step during the maternal-zygotic transition. In particular, Nup107 enhances the nuclear retention of miR427 primary transcript (pri-miR427), where it can be processed by Drosha to facilitate the clearance of maternal transcripts. While cacna1g mutations were also found in patients with CHD, we show that Cacna1g affects organogenesis via a completely distinct mechanism. Specifically, our results indicate that cacna1g loss-of-function affects Left-Right patterning and subsequent cardiac development by reducing the number of cilia in the Left-Right Organizer. In summary, we describe two mechanisms of how novel candidate genes affect different stages of embryonic development and contribute to CHD.

English

ISBN: 9798286444045Subjects--Topical Terms:

592588
Developmental biology.
Subjects--Index Terms:

Congenital Heart Disease

Mechanisms of Heart and Major Vessel Development: Nup107 and Cacna1g As Novel Regulators /
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245 1 0 $a Mechanisms of Heart and Major Vessel Development: Nup107 and Cacna1g As Novel Regulators / $c Valentyna Kostiuk.
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520 $a Congenital Heart Disease (CHD) is the most common congenital malformation and a leading cause of infant mortality. While advances in genomic sequencing technology have enabled a fast and inexpensive candidate gene identification, the molecular mechanisms of CHD remain mostly unknown. Both nup107 and cacna1g are novel CHD genes identified in CHD patients with no plausible mechanisms explaining their roles in cardiac development. Here, we show that nup107 plays a key role in early embryonic patterning and subsequent organ development. The loss of Nup107 has a direct impact on germ layer specification, Left-Right patterning and downstream cardiac looping. Specifically, Nup107 depletion affects multiple developmental events by regulating the key step during the maternal-zygotic transition. In particular, Nup107 enhances the nuclear retention of miR427 primary transcript (pri-miR427), where it can be processed by Drosha to facilitate the clearance of maternal transcripts. While cacna1g mutations were also found in patients with CHD, we show that Cacna1g affects organogenesis via a completely distinct mechanism. Specifically, our results indicate that cacna1g loss-of-function affects Left-Right patterning and subsequent cardiac development by reducing the number of cilia in the Left-Right Organizer. In summary, we describe two mechanisms of how novel candidate genes affect different stages of embryonic development and contribute to CHD.
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650 4 $a Developmental biology. $3 592588
650 4 $a Medicine. $3 641104
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653 $a Congenital malformation
653 $a Infant mortality
653 $a Vessel development
653 $a Molecular mechanisms
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710 2 $a Yale University. $b Genetics. $e degree granting institution. $3 3816319
720 1 $a Nitabach, Michael $e degree supervisor.
720 1 $a Khokha, Mustafa K. $e degree supervisor.
773 0 $t Dissertations Abstracts International $g 86-12B.
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791 $a Ph.D.
792 $a 2025
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