Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The human (h) protein hormones, growth hormone (hGH-N) and prolactin (hPRL), are mainly produced in the pituitary, whereas the human placenta expresses the other four members of the protein hormone gene family, designated placental lactogens (PL-A, PL-B, PL-L) and growth hormone variant (GH-V), GH-N stimulates somatic growth, supports nitrogen-, phosphate- and potassium retention and promotes lipolytic and anabolic metabolism, whereas PRL acts on the mammary gland and induces mammogenesis, lactogenesis and galactopoesis. Both hyperprolactinemia and growth hormone deficiency affect the onset of puberty and reproduction in man and mice. In addition to the glycoprotein hormones, these hormones play a role in the maintenance of testicular function. Our group previously demonstrated eutopic production of glycoprotein hormones hLH (human luteinizing hormone) and hCG (human chorionic gonadotropin) in the testis. We have now extended our investigations to the local testicular expression of protein hormones. By means of the molecular biology techniques of the reverse transcription-polymerase chain reaction (RT-PCR), Southern blot and by restriction endonuclease analyses of the generated PCR products we demonstrated the eutopic expression of genes coding for the protein hormones. GH-N gene transcripts were detected only in the pituitary and abundant PL-A/B and a few GH-V gene transcripts were demonstrable in the placenta. In contrast, in the testis GH/PL and PRL genes are transcribed. Since testicular protein hormone gene expression is rather low, these hormones may act locally and not as systemic factors; they presumably modulate the LH/CG-mediated testosterone biosynthesis and/or may act on the spermatogenesis.
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PMID:[The testis as eutopic production site of human growth hormone, placental lactogen and prolactin: possible autocrine/paracrine effects on testicular function]. 899 85

Familial growth hormone deficiency type 1A is an autosomal recessive disease caused by homogenous deletions of both alleles of growth hormone gene 1 (hGH1) in various patterns. The hGH1 gene deletion is an event that probably occurs between the 5' and 3' flanking regions by unequal recombination, and results in deletion of the hGH1 gene in different patterns. Deletions are mostly 6.7 kb and rarely 7.0 kb, 7.6 kb and 45 kb in size. A four-year-old girl diagnosed with growth hormone deficiency syndrome was send to us for further evaluation. DNA samples of the patient, her parents and controls were amplified by polymerase chain reaction (PCR); furthermore, restriction endonuclease analysis was done with Sma I enzyme and the patterns were evaluated. Our gel electrophoresis results show that the gene deletion pattern of the patient represents a homogenous 6.7 kb deletion, while her parents had a heterogeneous 6.7 kb deletion pattern.
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PMID:A Turkish family with 6.7 Kb deletion associated with isolated growth hormone deficiency type 1A. 1086


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