ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2021) 18 1.4 | DOI: 10.1530/ey.18.1.4

ESPEYB18 1. Pituitary and Neuroendocrinology Development/Ontogeny (6 abstracts)

1.4. Rathke's cleft-like cysts arise from Isl1 deletion in murine pituitary progenitors

Brinkmeier ML , Bando H , Camarano AC , Fujio S , Yoshimoto K , de Souza FS & Camper SA

J Clin Invest. 2020 Aug 3;130(8):4501–4515. doi: 10.1172/JCI136745. PMID: 32453714.

This study used mouse models to investigate the role of LIM homeodomain transcription factor Isl1 in pituitary development. It reveals that Isl1 has multiple, critical roles in pituitary gland development. Pituitary-specific Isl1 deletion caused hypopituitarism with increased stem cell apoptosis, reduced both the differentiation of thyrotropes and gonadotropes and body size, and even promoted the development of multiple Rathke’s cleft-like cysts.

These studies support a model whereby expression of Isl1 in pituitary progenitors drives differentiation into thyrotropes and gonadotropes and without it, activation of Foxa1 and Foxj1 permits the development of an oral epithelial cell fate with mucinous cysts. This comprehensive mechanistic study, focusing on a specific gene, provides a basis for disease prediction and diagnosis.

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