BIOMAT Database Logo BIOMAT Database Logo

Congenital pituitary hormone deficiencies: role of LHX3/LHX4 genes. 2008

Frederic Castinetti, and Rachel Reynaud, and Alexandru Saveanu, and Marie-Helene Quentien, and Frederique Albarel, and Alain Enjalbert, and Anne Barlier, and Thierry Brue
a Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille (CRN2M), UMR6231, Faculté de Médecine Nord, Centre National de la Recherche Scientifique, Université de la Méditerranée and Centre de Référence des Déficits Hypophysaires, Hôpital de la Timone, Assistance Publique Hôpitaux de Marseille, 13385 Marseille, France.

LHX3 and LHX4 are LIM domain transcription factors involved in the early steps of pituitary organogenesis. They are necessary for the proper differentiation of Rathke's pouch that gives rise to the anterior pituitary lobe. Mutations of these transcription factors are involved in congenital hypopituitarism: to date, nine mutations of LHX3 have been reported, responsible for variable pituitary hormone deficiencies and extrapituitary manifestations, including limited neck rotation. By contrast, only five LHX4 mutations have been reported, responsible for variable hormone deficiencies, and pituitary/intracranial abnormalities. Future investigations will aim to better understand human pituitary organogenesis and to shed light on the interspecies differences in the roles of these transcription factors.

UI MeSH Term Description Entries

Related Publications

Frederic Castinetti, and Rachel Reynaud, and Alexandru Saveanu, and Marie-Helene Quentien, and Frederique Albarel, and Alain Enjalbert, and Anne Barlier, and Thierry Brue
LHX3 and LHX4 transcription factors in pituitary development and disease.
January 2009, Pediatric endocrinology reviews : PER,
Frederic Castinetti, and Rachel Reynaud, and Alexandru Saveanu, and Marie-Helene Quentien, and Frederique Albarel, and Alain Enjalbert, and Anne Barlier, and Thierry Brue
Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development.
December 2004, Gene expression patterns : GEP,
Frederic Castinetti, and Rachel Reynaud, and Alexandru Saveanu, and Marie-Helene Quentien, and Frederique Albarel, and Alain Enjalbert, and Anne Barlier, and Thierry Brue
Roles of the LHX3 and LHX4 LIM-homeodomain factors in pituitary development.
February 2007, Molecular and cellular endocrinology,
Frederic Castinetti, and Rachel Reynaud, and Alexandru Saveanu, and Marie-Helene Quentien, and Frederique Albarel, and Alain Enjalbert, and Anne Barlier, and Thierry Brue
Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
March 2008, The Journal of clinical endocrinology and metabolism,
Frederic Castinetti, and Rachel Reynaud, and Alexandru Saveanu, and Marie-Helene Quentien, and Frederique Albarel, and Alain Enjalbert, and Anne Barlier, and Thierry Brue
[Congenital multiple anterior pituitary hormone deficiencies. An approach of pituitary ontogenesis].
January 1997, Annales d'endocrinologie,
Frederic Castinetti, and Rachel Reynaud, and Alexandru Saveanu, and Marie-Helene Quentien, and Frederique Albarel, and Alain Enjalbert, and Anne Barlier, and Thierry Brue
Hypothalamic sonic hedgehog is required for cell specification and proliferation of LHX3/LHX4 pituitary embryonic precursors.
September 2017, Development (Cambridge, England),
Frederic Castinetti, and Rachel Reynaud, and Alexandru Saveanu, and Marie-Helene Quentien, and Frederique Albarel, and Alain Enjalbert, and Anne Barlier, and Thierry Brue
LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes.
March 2001, Gene,
Frederic Castinetti, and Rachel Reynaud, and Alexandru Saveanu, and Marie-Helene Quentien, and Frederique Albarel, and Alain Enjalbert, and Anne Barlier, and Thierry Brue
Expression and function of the LIM homeobox containing genes Lhx3 and Lhx4 in the mouse placenta.
May 2008, Developmental dynamics : an official publication of the American Association of Anatomists,
Frederic Castinetti, and Rachel Reynaud, and Alexandru Saveanu, and Marie-Helene Quentien, and Frederique Albarel, and Alain Enjalbert, and Anne Barlier, and Thierry Brue
Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
May 2007, The Journal of clinical endocrinology and metabolism,
Frederic Castinetti, and Rachel Reynaud, and Alexandru Saveanu, and Marie-Helene Quentien, and Frederique Albarel, and Alain Enjalbert, and Anne Barlier, and Thierry Brue
Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties.
December 1999, Molecular endocrinology (Baltimore, Md.),
Copied contents to your clipboard!