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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Mutations in BOREALIN cause thyroid dysgenesis.

Aurore Carré^1,2, Athanasia Stoupa^2,3, Dulanjalee Kariyawasam^1,3

¹INSERM U1016, Cochin Institute, Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

Human Molecular Genetics

|December 28, 2016

Summary

This summary is machine-generated.

Novel mutations in the BOREALIN gene are linked to thyroid dysgenesis (TD), a common cause of congenital hypothyroidism. These findings reveal new genetic insights into TD, impacting infant endocrine health.

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Area of Science:

Genetics
Endocrinology
Cell Biology

Background:

Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder.
Thyroid dysgenesis (TD) accounts for the majority of CH cases, often due to developmental abnormalities.
Identifying the genetic underpinnings of TD is crucial for understanding and diagnosing CH.

Purpose of the Study:

To identify novel genetic factors associated with thyroid dysgenesis (TD).
To investigate the functional consequences of identified genetic mutations in human thyrocytes.
To explore potential non-mitotic roles of the BOREALIN gene in thyroid development.

Main Methods:

Whole exome sequencing (WES) was performed on a consanguineous family with TD.
A cohort of 134 TD probands was sequenced to identify genetic variants.
Functional studies involved expressing mutant BOREALIN in human thyrocytes and analyzing gene expression patterns.

Main Results:

Novel missense mutations (p.S148F, p.R114Q, p.L177W) in the BOREALIN gene were identified in TD-affected families.
The identified BOREALIN mutations did not significantly affect mitosis.
Mutant BOREALIN expression in thyrocytes led to impaired cell adhesion and migration, with altered gene expression profiles.

Conclusions:

The BOREALIN gene, a component of the Chromosomal Passenger Complex (CPC), plays a role in thyroid development beyond its known mitotic functions.
Mutations in BOREALIN represent a new genetic cause of thyroid dysgenesis in humans.
These findings expand our understanding of the genetic etiology of congenital hypothyroidism and TD.