GNAS1

GNAS complex locus, also known as GNAS, is a human gene.

PBB_Summary
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summary_text = This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contains a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript exists, and this antisense transcript and one of the transcripts are paternally expressed, produce noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [cite web | title = Entrez Gene: GNAS GNAS complex locus| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2778| accessdate = ]

Deficiencies are associated with:
* Albright hereditary osteodystrophy
* pseudohypoparathyroidism type Ia
* pseudopseudohypoparathyroidism
* McCune-Albright syndrome

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Tinschert S, Gerl H, Gewies A, "et al." |title=McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient. |journal=Am. J. Med. Genet. |volume=83 |issue= 2 |pages= 100–8 |year= 1999 |pmid= 10190480 |doi=
*cite journal | author=Faivre L, Nivelon-Chevallier A, Kottler ML, "et al." |title=Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome. |journal=Am. J. Med. Genet. |volume=99 |issue= 2 |pages= 132–6 |year= 2001 |pmid= 11241472 |doi=
*cite journal | author=Raymond JR, Mukhin YV, Gelasco A, "et al." |title=Multiplicity of mechanisms of serotonin receptor signal transduction. |journal=Pharmacol. Ther. |volume=92 |issue= 2-3 |pages= 179–212 |year= 2002 |pmid= 11916537 |doi=
*cite journal | author=Weinstein LS, Chen M, Liu J |title=Gs(alpha) mutations and imprinting defects in human disease. |journal=Ann. N. Y. Acad. Sci. |volume=968 |issue= |pages= 173–97 |year= 2002 |pmid= 12119276 |doi=
*cite journal | author=Bastepe M, Jüppner H |title=GNAS locus and pseudohypoparathyroidism. |journal=Horm. Res. |volume=63 |issue= 2 |pages= 65–74 |year= 2005 |pmid= 15711092 |doi= 10.1159/000083895
*cite journal | author=de Sanctis L, Delmastro L, Russo MC, "et al." |title=Genetics of McCune-Albright syndrome. |journal=J. Pediatr. Endocrinol. Metab. |volume=19 Suppl 2 |issue= |pages= 577–82 |year= 2006 |pmid= 16789620 |doi=
*cite journal | author=Aldred MA |title=Genetics of pseudohypoparathyroidism types Ia and Ic. |journal=J. Pediatr. Endocrinol. Metab. |volume=19 Suppl 2 |issue= |pages= 635–40 |year= 2006 |pmid= 16789628 |doi=
*cite journal | author=Jüppner H, Bastepe M |title=Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism. |journal=J. Pediatr. Endocrinol. Metab. |volume=19 Suppl 2 |issue= |pages= 641–6 |year= 2006 |pmid= 16789629 |doi=
*cite journal | author=Mantovani G, Spada A |title=Mutations in the Gs alpha gene causing hormone resistance. |journal=Best Pract. Res. Clin. Endocrinol. Metab. |volume=20 |issue= 4 |pages= 501–13 |year= 2007 |pmid= 17161328 |doi= 10.1016/j.beem.2006.09.001

External links

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