The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted Transcripts.

paper Cited Public

Authors: Bastepe, Murat
Year: 2007
Journal: Current genomics
PMID: 19412439
DOI: 10.2174/138920207783406488
PMCID: PMC2671723

Fig. (1)

Multiple imprinted sense and antisense transcripts from the complex GNAS locus. Exons 1-13 encode Gsα , which is biallelic in most tissues; however, paternal Gsα allele is silenced in a small number of tissues, including the renal proximal tubule, thyroid, and pituitary. From differentially methylated promoters arise several other transcripts, including the maternally expressed NESP55 and the paternally expressed XLαs. Both of these transcripts use individual first exons that splice onto exons 2-13. In addition, the paternal GNAS allele gives rise to a transcript termed A/B (also referred to as 1A or 1’), which also shares exons 2-13 and is presumed to be non-coding. Note that the A/B transcript contains an ORF (colored grey) that could lead to a translational product, but the existence of endogenous A/B protein is not supported experimentally. Another non-coding transcript is also derived from the paternal GNAS allele, but this transcript is made from the antisense strand (AS transcript). Boxes and connecting lines depict exons and introns, respectively. Open rectangles and rectangles filled with CH3 show non-methylated and methylated DMRs, respectively. The distance between AS exon 5 and exon NESP55 is ~19 kb and the distance between exon A/B and exon XL ~35 kb. Maternal (mat) and paternal (pat) GNAS products are illustrated above and below the gene structure, respectively, with splicing patterns indicated by broken lines. Filled boxes indicate untranslated sequences.

Fig. (2)

Splice variants of Gsα. Alternative splicing of exon 3 leads to Gsα-L and Gsα-S, each of which has subvariants due to alternative splicing of a serine codon at the start of exon 4. Gsα-N1 is formed through the use of an exon that comprises an in-frame termination codon and is located between exons 3 and 4. Boxes and connecting lines depict exons and introns, respectively. The alternatively spliced serine codon is depicted as a circle. Splicing patterns are indicated by broken lines. Filled boxes indicate 5’ and 3’ untranslated regions.

Fig. (3)

XLαs and its multiple variants. XLαs is derived from a promoter upstream of that which drives the expression of Gsα . Panel A. Alternative splicing leads to different XLαs variants that are analogues to Gsα variants. In addition, an N-terminally extended XLαs variant, termed XXLαs, is made, representing the 5’ extension of the ORF. For simplicity, GNAS exons located upstream of exon XL are not shown. Panel B. XLαs and XXLαs mRNA include two ORFs each. The second ORF leads to ALEX or ALEXX, respectively.

Fig. (4)

Regulation of gene expression from the GNAS locus. The maternal GNAS allele comprises two germ-line imprint marks, one at the AS promoter and the other at exon A/B. Ablation of the non-methylated, paternal AS promoter causes derepression of NESP55, and ablation of the non-methylated, paternal exon A/B leads to derepression of Gsα; the latter occurs in tissues where the latter is normally silenced from the paternal allele (*). Most familial PHP-Ib cases exhibit isolated loss of GNAS exon A/B imprinting. Deletions identified in those cases point to a region within the STX16 locus, probably around exon 4, as comprising a cis-acting long-range regulatory element that is necessary for the establishment of the maternal exon A/B imprint. All GNAS maternal imprints are lost in most sporadic and some familial PHP-Ib cases. Deletions identified in the latter suggest that the NESP55 DMR, which contains not only exon NESP55 but also exons 3 and 4 of the AS transcript, comprises a cis-acting element that controls the imprinting of the entire maternal GNAS allele. Arrows indicate the regulatory effects revealed by mutations in PHP-Ib and the study of knockout mouse models. mat, maternal; pat, paternal.

#	Section	Preview
20	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — XLαs	As illustrated in Fig. (3A), XLαs has several different variants. Similar to Gsα, it uses exon 3…
21	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — XLαs	There is evidence for the existence of a long XLαs transcript, termed XXLαs, which extends in the…
22	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — XLαs	The XLαs mRNA has a second ORF that encodes another protein termed ALEX (for alternative protein…
23	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — XLαs	Exon XL has been disrupted in mice through introduction of a small deletion into the beginning part…
24	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — XLαs	associated with reduced adiposity and hypolipidemia [67]. In addition, circulating levels of…
25	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — XLαs	The genetic alteration in the Gnasxl knockout mice is predicted to disrupt not only XLαs but also…
26	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — XLαs	mice heterozygous for disruption of Gnas exon 1, in which Gsα, but not XLαs, is ablated [41, 82].…
27	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — XLαs	Findings that are reminiscent of those observed in Gnasxl knockout mice and the mice with paternal…
28	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — The A/B Transcript	About 2.5 kb upstream of the Gsα promoter lies another promoter that drives the nearly ubiquitous…
29	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — The A/B Transcript	On the other hand, it appears more likely that the A/B transcript is non-coding, as the existence of…
30	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — The A/B Transcript	normally silenced, such as the renal cortex [81, 88]. Thus, it appears that the non-methylated A/B…
31	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — The A/B Transcript	The mechanisms underlying the role of A/B in the tissue-specific silencing of paternal Gsα…
32	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — The GNAS Antisense Transcript	A promoter located immediately upstream of the XLαs promoter drives expression of an antisense…
33	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — The GNAS Antisense Transcript	paternal allele [65, 93, 94]; however, the antisense transcript shows biallelic expression in the…
34	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — The GNAS Antisense Transcript	Paternal deletion of the antisense promoter in mice results in derepression of Nesp55 in cis,…
35	NOVEL IMPRINTED GENE PRODUCTS OF THE GNAS LOCUS — The GNAS Antisense Transcript	Gsα expression in cis, i.e. the tissue specific Gsα imprinting is relaxed. These findings clearly…
36	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS	Consistent with the pivotal role of Gsα in multiple biological responses, mutations that affect the…
37	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — Endocrine Adenomas and other Tumors	Many hormones bind Gsα-coupled receptors in order to activate their endocrine glands for…
38	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — Endocrine Adenomas and other Tumors	[98]). Some studies have recently identified the gsp oncogene in ovarian granulosa cell tumors and…
39	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — McCune-Albright Syndrome	This syndrome, independently described by McCune [105] and Albright et al. [106], is characterized…

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In this knowledge base

Title	Year	PMID
Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence.	2011	21184583

External

Title	Authors	Journal	Year	Link
Candidate imprinting control regions in dog genome.	Wyss P et al.	—	2025	→
The GNAS Gene: Fibrous Dysplasia, McCune-Albright Syndrome, and Skeletal Structure and Function.	Littman JL et al.	—	2025	→
Candidate imprinting control regions in dog genome	Wyss P et al.	—	2024	—
Heterodisomy in the <i>GNAS</i> locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3).	Manero-Azua A et al.	—	2024	→
Identification of diagnostic biomarkers and immune cell profiles associated with COPD integrated bioinformatics and machine learning.	Zhu Z et al.	—	2024	→
GNAS gene mutations affecting XLαs and bone health: A long neglected relationship.	Xie Y et al.	—	2023	→
<i>GNAS</i> locus: bone related diseases and mouse models.	Yang W et al.	—	2023	→
The spatial landscape of gene expression isoforms in tissue sections.	Lebrigand K et al.	—	2023	→
Along the Bos taurus genome, uncover candidate imprinting control regions.	Wyss P et al.	—	2022	→
Case Report: A Paternal 20q13.2-q13.32 Deletion Patient With Growth Retardation Improved by Growth Hormone.	Liu Y et al.	—	2022	→
Frequency of <i>de novo</i> variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.	Vado Y et al.	—	2022	→
Maternal <i>GNAS</i> Contributes to the Extra-Large G Protein α-Subunit (XLαs) Expression in a Cell Type-Specific Manner.	Cui Q et al.	—	2021	→
Defining the male contribution to embryo quality and offspring health in assisted reproduction in farm animals.	Morgan HL et al.	—	2020	→
Methylation changes at the <i>GNAS</i> imprinted locus in pancreatic cystic neoplasms are important for the diagnosis of malignant cysts.	Faias S et al.	—	2020	→
Proteomic Profiling Change and Its Implies in the Early Mycosis Fungoides (MF) Using Isobaric Tags for Relative and Absolute Quantification (iTRAQ).	Zhu M et al.	—	2020	→
Differential Functions of Splicing Factors in Mammary Transformation and Breast Cancer Metastasis.	Park S et al.	—	2019	→
Gα<sub>s</sub> signaling in skeletal development, homeostasis and diseases.	Cong Q et al.	—	2019	→
Multi-functionality of proteins involved in GPCR and G protein signaling: making sense of structure-function continuum with intrinsic disorder-based proteoforms.	Fonin AV et al.	—	2019	→
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.	Dembic M et al.	—	2019	→
A Statistical Method for Observing Personal Diploid Methylomes and Transcriptomes with Single-Molecule Real-Time Sequencing.	Suzuki Y et al.	—	2018	→
GNAS mutations and heterotopic ossification.	Bastepe M	—	2018	→
Far infrared radiation promotes rabbit renal proximal tubule cell proliferation and functional characteristics, and protects against cisplatin-induced nephrotoxicity.	Chiang IN et al.	—	2017	→
Gsα Controls Cortical Bone Quality by Regulating Osteoclast Differentiation via cAMP/PKA and β-Catenin Pathways.	Ramaswamy G et al.	—	2017	→
Role of DNA methylation in imprinting disorders: an updated review.	Elhamamsy AR	—	2017	→
Cortisol-secreting adrenocortical tumours in dogs and their relevance for human medicine.	Galac S	—	2016	→
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.	Elli FM et al.	—	2016	→
Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.	Turan S et al.	—	2015	→
GNAS Spectrum of Disorders.	Turan S et al.	—	2015	→
Progressive osseous heteroplasia: diagnosis, treatment, and prognosis.	Pignolo RJ et al.	—	2015	→
The landscape of genomic imprinting across diverse adult human tissues.	Baran Y et al.	—	2015	→
Analysis of GNAS1 mutations in myxoid soft tissue and bone tumors.	Walther I et al.	—	2014	→
Characterization of genome-methylome interactions in 22 nuclear pedigrees.	Plongthongkum N et al.	—	2014	→
Sperm DNA methylation analysis in swine reveals conserved and species-specific methylation patterns and highlights an altered methylation at the GNAS locus in infertile boars.	Congras A et al.	—	2014	→
Activating mutations of GNAS in canine cortisol-secreting adrenocortical tumors.	Kool MM et al.	—	2013	→
Analysis of the associations between polymorphisms in GNAS complex locus and growth, carcass and meat quality traits in pigs.	Oczkowicz M et al.	—	2013	→
Brachydactyly E: isolated or as a feature of a syndrome.	Pereda A et al.	—	2013	→
Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay.	Yuno A et al.	—	2013	→
Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.	Proverbio MC et al.	—	2013	→
A distinct microvascular endothelial gene expression profile in severe IUGR placentas.	Dunk CE et al.	—	2012	→
Different roles of GNAS and cAMP signaling during early and late stages of osteogenic differentiation.	Zhang S et al.	—	2012	→
Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.	Lattanzi W et al.	—	2012	→
A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes.	Lado-Abeal J et al.	—	2011	→
Computed tomographic features of fibrous dysplasia of maxillofacial region.	Sontakke SA et al.	—	2011	→
Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence.	Zlojutro M et al.	—	2011	→
Parathyroid hormone signaling via Gαs is selectively inhibited by an NH(2)-terminally truncated Gαs: implications for pseudohypoparathyroidism.	Puzhko S et al.	—	2011	→
Resistance to epinephrine and hypersensitivity (hyperresponsiveness) to CB1 antagonists in a patient with pseudohypoparathyroidism type Ic.	Al-Salameh A et al.	—	2010	→