Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01189 (beta-endorphin)
 21,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The pituitary gland contains six distinct hormone-producing cell types that arise sequentially during organogenesis. The first cells to differentiate are those that express the pro-opiomelanocortin (POMC) gene in the anterior pituitary lobe. The other lineages, which appear later, include cells that are dependent on the POU factor Pit-1 and another POMC-expressing lineage in the intermediate pituitary lobe. Using AtT-20 cells as a model for early expression of POMC in the anterior pituitary, we have defined a regulatory element conferring cell specificity of transcription and cloned a cognate transcription factor. This factor, Ptx1 (pituitary homeo box 1), contains a homeo box related to those of the anterior-specific genes bicoid and orthodenticle in Drosophila, and Otx-1 and Otx-2 in mammals. Ptx1 activates transcription upon binding a sequence related to the Drosophila bicoid target sites. Ptx1 is the only nuclear factor of this DNA-binding specificity that is detected in AtT-20 cells, and it is expressed at high levels in a subset of adult anterior pituitary cells that express POMC. However, Ptx1 is expressed in most cells of Rathke's pouch at an early time during pituitary development and before final differentiation of hormone-producing cells. Thus, Ptx1 may have a role in differentiation of pituitary cells, and its early expression pattern suggests that it may have a role in pituitary formation. In the adult pituitary gland, Ptx1 appears to be recruited for cell-specific transcription of the POMC gene.
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PMID:Ptx1, a bicoid-related homeo box transcription factor involved in transcription of the pro-opiomelanocortin gene. 867 14

We investigated the localization of pituitary homeo box 1 (Ptx1) protein in five human non-neoplastic pituitaries and 73 of all types of pituitary adenomas using immunohistochemistry, and the expression of Ptx1 messenger RNA (mRNA) in 18 representative pituitary adenomas using the reverse transcriptase polymerase chain reaction (RT-PCR) technique. By immunohistochemical analysis, Ptx1 protein was extensively detected in the nuclei of normal human pituitary cells. Ptx1 was detected in 10/14 (71.4%) of growth hormone (GH)-secreting adenomas, 12/12 (100%) of prolactin (PRL)-secreting adenomas, 18/20 (90%) of adrenocorticotropic hormone (ACTH)-secreting adenomas, 6/7 (85.7%) of thyroid-stimulating hormone (TSH)-secreting adenomas, and 17/20 (85%) of clinically non-functioning adenomas, including 9/10 (90%) of gonadotropin-subunit-positive adenomas. Thus, there was no relationship between Ptx1 expression and a particular type of pituitary adenomas. By RT-PCR analysis, Ptx1 mRNA was expressed in all 18 cases of pituitary adenomas, including two cases negative for Ptx1 protein by immunohistochemistry. These results suggested that Ptx1 may be an universal transcription factor in both neoplastic and non-neoplastic conditions in human pituitaries. The synergistic action with other transcription factors may be speculated to determine the specific production of the anterior pituitary hormones.
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PMID:Expression of pituitary homeo box 1 (Ptx1) in human non-neoplastic pituitaries and pituitary adenomas. 1104 4

Neuro D1 is a basic helix-loop-helix transcription factor expressed in the endocrine cells of pancreas and in a subset of neurons as they undergo terminal differentiation. In the adult pituitary gland, Neuro D1 is expressed in corticotroph cells and contributes to the corticotroph-specific pro-opiomelanocortin (POMC) transcription by interacting with Pituitary homeobox 1 (Ptx 1) transcription factor. In the present study, we investigated the expression of Neuro D1 in human normal pituitaries and different types of human pituitary adenomas using the RT-PCR and immunohistochemical techniques. Using RT-PCR, Neuro D1 mRNA was found to be expressed in ACTH-secreting adenomas (n = 3) and 6 of 8 non-functioning adenomas. On the other hand, GH-secreting adenomas (n = 5) and PRL-secreting adenomas (n = 3) were completely negative for Neuro D1 mRNA. Immunohistochemically, Neuro D1 was expressed in all ACTH-secreting adenomas (n = 10), and in 14 of 20 nonfunctioning adenomas. In contrast, 3 of 10 PRL-secreting adenomas and 2 of 10 GH-secreting adenomas showed positive Neuro D1 staining in the nuclei. The above results suggest that Neuro D1 contribute to the functional expression and the differentiation of ACTH-secreting adenomas. It also appears from our study that Neuro D1 might play a role in the differentiation of non-functioning adenomas, the mechanism of which remains to be further investigated. This is the first study on Neuro D1 in case of human pituitary adenomas.
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PMID:Expression of neuro D1 in human normal pituitaries and pituitary adenomas. 1155 86

Pituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes and corticotropes. We performed genetic analysis of PROP1 gene in a Turkish pedigree with three siblings who presented with short stature. Parents were first degree cousins. Index case, a boy, had somatotrope, gonadotrope, thyrotrope, and corticotrope deficiency. However, two elder sisters had somatotroph, gonadotroph, and thyrotroph deficiency and no corticotroph deficiency. On pituitary magnetic resonance, partial empty sella was detected with normal bright spot in all siblings. In genetic analysis, we found a gross deletion involving PROP1 coding region. In conclusion, we report three Turkish siblings with a gross deletion in PROP1 gene. Interestingly, although little boy with combined pituitary hormone deficiency has adrenocorticotropic hormone (ACTH) deficiency, his elder sisters with the same gross PROP1 deletion have no ACTH deficiency. This finding is in line with the fact that patients with PROP1 mutations may have different phenotype/genotype correlation.
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PMID:A Large PROP1 Gene Deletion in a Turkish Pedigree. 3011 24