Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene

Tatsumi, Koichi; Miyai, Kiyoshi; Notomi, Tsugunori; Kaibe, Kyoko; Amino, Nobuyuki; Mizuno, Yuji; Kohno, Hitoshi

doi:10.1038/ng0492-56

Cited by 322 publications

(145 citation statements)

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“…It was initially identified and cloned based on its ability to bind and transactivate the expression of the mammalian prl and gh genes. These findings were underscored by the identification of spontaneous mutations in the human and murine pit1 gene, which cause an absence of lacto-, thyro-, and somatotrope differentiation, thereby defining the so-called Pit1 lineage (Li et al, 1990, Tatsumi et al, 1992, Pfaffle et al, 1992, Radovick et al, 1992. The more recently identified zebrafish pit1 mutants lack exactly the same three AH cell types, indicating that the function of Pit1 during AH lineage specification is highly conserved among the different vertebrate classes (Nica et al, 2004).…”

mentioning

confidence: 99%

How to make a teleost adenohypophysis: Molecular pathways of pituitary development in zebrafish

Pogoda

Hammerschmidt

2009

Molecular and Cellular Endocrinology

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Please cite this article as: Pogoda, H.-M., Hammerschmidt, M., How to make a Teleost Adenohypophysis: Molecular Pathways of Pituitary development in Zebrafish, Molecular and Cellular Endocrinology (2008), doi:10.1016/j.mce.2009 This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. In the past years, the zebrafish has emerged as a powerful tool to elucidate the genetic networks controlling vertebrate development, behavior and disease. Based on mutants isolated in forward genetic screens and on gene knock-downs using morpholino oligonucleotide (oligo) antisense technology, our current understanding of the molecular machinery driving adenohypophyseal ontogeny could be considerably improved. In addition, comparative analyses have shed further light onto the evolution of this rather recently invented organ. The goal of this review is to summarize current knowledge of the genetic and molecular control of zebrafish pituitary development, with special focus on most recent findings, including some thus far unpublished data from our own laboratory on the transcription factor Six1. In addition, zebrafish data will be discussed in comparison with current understanding of adenohypophysis development in mouse.

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mentioning

confidence: 99%

How to make a teleost adenohypophysis: Molecular pathways of pituitary development in zebrafish

Pogoda

Hammerschmidt

2009

Molecular and Cellular Endocrinology

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“…Some of these mutations can be understood in terms of their negative effects on DNA binding. For instance, the nonsense mutations R172X and E250X (using a numbering scheme based on the whole protein, where X stands for a stop codon) cause deletions of protein segments important for DNA binding (Tatsumi et al 1992;Irie et al 1995). The missense mutation RI43Q substitutes a critical arginine residue with a glutamine (Ohta et al 1992).…”

Section: Cphdmentioning

confidence: 99%

Structure of Pit-1 POU domain bound to DNA as a dimer: unexpected arrangement and flexibility.

Jacobson¹,

Leon-Del-Rio²,

Rosenfeld³

et al. 1997

Genes Dev.

193

145

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Pit-1, a member of the POU domain family of transcription factors, characterized by a bipartite DNA-binding domain, serves critical developmental functions based on binding to diverse DNA elements in its target genes. Here we report a high resolution X-ray analysis of the Pit-1 POU domain bound to a DNA element as a homodimer. This analysis reveals that Pit-1 subdomains bind to perpendicular faces of the DNA, rather than opposite faces of the DNA as in Oct-1. This is accomplished by different spacing and orientation of the POU-specific domain. Contrary to previous predictions, the dimerization interface involves the carboxyl terminus of the DNA recognition helix of the homeodomain, which in an extended conformation interacts with specific residues at the amino terminus of helix al and in the loop between helices a3 and a4 of the POU-specific domain of the symmetry related monomer. These features suggest the molecular basis of disease-causing mutations in Pit-1 and provide potential basis for the flexible allostery between protein domains and DNA sites in the activation of target genes.[Key Words: Crystal structure; Pit-1; POU-domain factors; dimerization; spacing; orientation] Received October 25, 1996; revised version accepted December 3, 1996.The expression of specific genes in cells is often governed by families of transcription factors harboring DNA-binding motifs. In eukaryotes, these factors often exhibit extraordinary versatility. For instance, the bZip and helix-loop-helix families of transcription factors bind to DNA as both homo-and heterodimers (Bexevanis and Vinson 1993;Glover and Harrison 1995). The nuclear receptors go a step further and recognize DNA elements with different spacings and polarities between the half-sites (Naar et al. 1991;Umesono et al. 1991;Kurokawa et al. 1993). The POU domain family of transcription factors are perhaps the most remarkable in their ability to bind DNA as both monomers and dimers and in their ability to adopt diverse configurations (Wegner et al. 1993;Herr and Cleary 1995). Part of this versatility derives from their unusual bipartite structure, consisting of a highly conserved -75 amino acid POUspecific domain (POUg), tethered by a linker of variable length and composition, to a 60-amino-acid homeodomain (POUH). The flexibility of the linker, in particular, allows the possibility of different relative spacings and orientations between the subdomains. This helps to exThese authors contributed equally to this work. "Corresponding author. Present address:

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“…Other studies have shown that GH deficiency is associated with serious functional deficits and increased risk of premature death due to cardiovascular complications (Sacca et al, 1994;Bates et al, 1996). Mutations similar to Pit-1 and Prop-1 have been reported in humans and those children affected require thyroid hormone and GH treatment (Tatsumi et al, 1992;Pfaffle et al, 1996;Fluck et al, 1998).…”

Section: Growth Hormone/insulin-like Growth Factor 1/insulinmentioning

confidence: 99%

Hormonal regulation of longevity in mammals

Brown‐Borg

2007

Ageing Research Reviews

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Multiple biological and environmental factors impact the life span of an organism. The endocrine system is a highly integrated physiological system in mammals that regulates metabolism, growth, reproduction, and response to stress, among other functions. As such, this pervasive entity has a major influence on aging and longevity. The growth hormone, insulin-like growth factor-1 and insulin pathways have been at the forefront of hormonal control of aging research in the last few years. Other hormones, including those from the thyroid and reproductive system have also been studied in terms of life span regulation. The relevance of these hormones to human longevity remains to be established, however the evidence from other species including yeast, nematodes, and flies suggest that evolutionarily well-conserved mechanisms are at play and the endocrine system is a key determinant.

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Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene

Cited by 322 publications

References 41 publications

How to make a teleost adenohypophysis: Molecular pathways of pituitary development in zebrafish

How to make a teleost adenohypophysis: Molecular pathways of pituitary development in zebrafish

Structure of Pit-1 POU domain bound to DNA as a dimer: unexpected arrangement and flexibility.

Hormonal regulation of longevity in mammals

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