The exon 3‐retaining and the exon 3‐deleted forms of the growth hormone‐binding protein (GHBP) in human serum are regulated differently

@article{Kratzsch2001TheE3,
  title={The exon 3‐retaining and the exon 3‐deleted forms of the growth hormone‐binding protein (GHBP) in human serum are regulated differently},
  author={Juergen Kratzsch and Z. Wu and Wieland Kiess and Bastian Dehmel and Andrea Bosse-Henck and W Reuter and C. D. Pflaum and Christian J Strasburger},
  journal={Clinical Endocrinology},
  year={2001},
  volume={54}
}
Recently, two isoforms of the growth hormone‐binding protein (GHBP), which is identical with the extracellular domain of the growth hormone receptor (GHR), have been described. One isoform contains the exon 3 (E3(+)GHBP) and one excludes the exon 3 (E3(–)GHBP). The distribution of both isoforms in peripheral blood and their functional relevance is so far unknown. 
Association between the GH receptor/exon 3 genotype and the level of exon 3-positive GH-binding protein in human serum.
TLDR
The results show that the GHR exon 3 genotype is in accord with the type of GHBP isoforms found in the serum, and support the idea that the presence of exon 2-retaining and -excluding GHR/GHBP isoform results from a genomic deletion rather than from alternative splicing.
Expression of Growth Hormone Receptor Isoform Exon-3-Excluding and Exon-3-Retaining Messenger RNAs in Peripheral Lymphocytes from Normal and Acromegalic Subjects
TLDR
These data demonstrate coexpression of both GHR isoforms under normal and pathological conditions; however, GHR3– is the predominant form in normal subjects and shows a negative correlation with IGF-I levels.
Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform.
TLDR
Intrafamilial correlation analyses of genotypes, GHR expression patterns, and phenotypes provided direct evidence against an alternative splicing of exon 3 of the GHR, and revealed that a single copy of either GHRfl or GHRd3 is sufficient for normal growth.
Physiology and pathophysiology of growth hormone-binding protein: methodological and clinical aspects.
  • S. Fisker
  • Biology, Medicine
    Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society
  • 2006
Growth hormone binding protein - physiological and analytical aspects.
GHR exon 3 polymorphism: association with type 2 diabetes mellitus and metabolic disorder.
  • R. Strawbridge, L. Kärvestedt, K. Brismar
  • Biology, Medicine
    Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society
  • 2007
Exon 3-deleted and full-length growth hormone receptor polymorphism frequencies in an Iranian population
TLDR
The results showed that the frequency of d3/d3GHR isoform was significantly lower than that of the fl/flGHR and d3-like-growth factor-1 (IGF-I) axis, and this finding is also consistant with Mexican population.
Molecular genetics of human growth hormone, insulin-like growth factors and their pathways in common disease
TLDR
These genes and their associations with disease phenotypes, with special attention to metabolic risk traits are reviewed, and a number of mutations accounting for rare Mendelian disorders have been described in GH-IGF elements.
Growth hormone receptor (GHR) exon 3 polymorphism status detection by dual-enzyme-linked immunosorbent assay (ELISA).
TLDR
This dual ELISA against tGHBP and E3(+)GHBP can be used as an alternative method for determining GHRd3 polymorphism status and it is observed that d3/d3 subjects had significantly lower serum levels of t GHBP compared with fl/fl andd3/fl genotypes.
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TLDR
Results indicate that the expression of the GHR isoforms is not tissue specific, and appears to be specific for each individual, suggesting that it is under the control of factors that affect all tissues in the body.
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TLDR
The GHR gene is widely expressed in human tissues, and both GHR + 3 and GHR-3 transcripts are present, but their relative proportions depend on the tissue and, possibly, the metabolic status.
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TLDR
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TLDR
The alternative splicing of exon 3 in hGHR transcripts is the result of an unusual polymorphism which significantly alterssplicing of the hG HR transcript and that the relatively high frequency (approximately 10%) of homozygous hGhrd3 expression suggests the possibility it may play a role in polygenic determined events.
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TLDR
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TLDR
An accurate and simple radioimmunoassay (RIA) which allows the specific quantitation of the exon 3-retaining GHBP isoform (E3-GHBP) and concludes that ISS children may have a structural or quantitative defect at the level of the GHR, and the highly specific assay for E3- GHBP immunoreactivity provides a sensitive diagnostic tool in conditions with partial GH insensitivity.
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TLDR
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TLDR
It is proposed that in addition to promoting receptor dimerization, mAb 263 may induce specific changes in receptor conformation similar to GH, which are required for the biological response.
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TLDR
A newly developed radioimmunoassay for the determination of the high-affinity growth hormone-binding protein (GHBP) in human blood is described and decreased concentrations were found compared to the normal range, depending on the activity of the disease.
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