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
40	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — McCune-Albright Syndrome	constitutively activating Gsα mutations present with fibrous dysplasia alone, affecting either a…
41	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — McCune-Albright Syndrome	the latter findings are consistent with the role of Gsα in mediating the phosphaturic actions of…
42	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — Pseudohypoparathyroidism Type-Ia, Pseudopseudohypoparathyroidism, and Progressive Osseous Heteroplasia	Fist described by Albright and colleagues [119], Pseudohypoparathyroidism (PHP) refers to end-organ…
43	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — Pseudohypoparathyroidism Type-Ia, Pseudopseudohypoparathyroidism, and Progressive Osseous Heteroplasia	Some patients with PHP-I display distinctive physical features collectively termed Albright’s…
44	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — Pseudohypoparathyroidism Type-Ia, Pseudopseudohypoparathyroidism, and Progressive Osseous Heteroplasia	Because Gsα is not exclusive for PTH signaling, PHP-Ia patients also show resistance to some other…
45	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — Pseudohypoparathyroidism Type-Ia, Pseudopseudohypoparathyroidism, and Progressive Osseous Heteroplasia	Inactivating Gsα mutations found in PHP-Ia patients are also present in patients who lack hormone…
46	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — Pseudohypoparathyroidism Type-Ia, Pseudopseudohypoparathyroidism, and Progressive Osseous Heteroplasia	AHO features are present in both PHP-Ia and PPHP patients, and therefore, the molecular mechanisms…
47	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — Pseudohypoparathyroidism Type-Ia, Pseudopseudohypoparathyroidism, and Progressive Osseous Heteroplasia	a recent study has clearly shown that obesity is more prominent in PHP-Ia patients than PPHP…
48	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — Pseudohypoparathyroidism Type-Ia, Pseudopseudohypoparathyroidism, and Progressive Osseous Heteroplasia	Progressive osseous heteroplasia (POH) describes a severe, debilitating disease characterized by…
49	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — PHP Type-Ib	Some patients with PTH-resistance lack AHO and any additional hormone resistance, defining the…
50	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — PHP Type-Ib	of TSH, LH, or isoproterenol, thus explaining the isolated PTH resistance. The selective effect of…
51	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — PHP Type-Ib	PHP-Ib is often sporadic, but a number of familial cases have also been described. A careful…
52	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — PHP Type-Ib	PHP-Ib cases [89, 160]. Based on these findings, the genetic mutation responsible for PHP-Ib is…
53	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — PHP Type-Ib	The overlapping region comprises exon 4, which is evolutionarily conserved and lies within a small…
54	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — PHP Type-Ib	All sporadic and some familial PHP-Ib cases show epigenetic defects at one or more GNAS DMRs in…
55	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — PHP Type-Ib	The broad GNAS epigenetic defects seen in the sporadic cases are often such that the maternal allele…
56	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — PHP Type-Ib	Sporadic PHP-Ib cases typically differ from familial PHP-Ib cases in the nature of the GNAS…
57	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — PHP Type-Ib	may be present in patients with PHP-Ib, but it may be too mild to become clinically manifest. This…
58	HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — PHP Type-Ib	The common defect in nearly all PHP-Ib cases is the loss of GNAS exon A/B imprinting. In fact, this…
59	ANIMAL MODELS OF THE GNAS-RELATED DISEASES — PHP-Ia/PPHP	Before the evidence that several different GNAS transcripts, in addition to Gsα, utilize exon 2, a…

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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	→