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Updated: Jun 14, 2026
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Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
GPR56 and its related diseases
Zhaohui Jin1, Rong Luo, Xianhua Piao
1Division of Newborn Medicine, Children’s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA.
Progress in Molecular Biology and Translational Science
|April 9, 2010
Summary
GPR56, a G protein-coupled receptor (GPCR), is crucial for brain development. Loss-of-function mutations in GPR56 cause polymicrogyria, a brain malformation, highlighting its role in central nervous system development.
Area of Science:
- Neuroscience
- Genetics
- Cell Biology
Background:
- GPR56, an orphan G protein-coupled receptor (GPCR), was initially identified through PCR-based approaches and differential display.
- Downregulation of GPR56 in metastatic melanoma suggested a role in cancer, but its function remained elusive.
Purpose of the Study:
- To elucidate the function of GPR56, particularly its role in human disease and development.
- To investigate the consequences of GPR56 loss-of-function mutations.
Main Methods:
- Identification of GPR56 through degenerate PCR and differential display.
- Analysis of human GPR56 gene mutations.
- Studies using a GPR56 knockout mouse model.
Main Results:
- Mutations in the human GPR56 gene were linked to bilateral frontoparietal polymicrogyria, a brain malformation.
- GPR56 knockout mouse models revealed its critical role in regulating brain development.
- GPR56 influences brain development by affecting the integrity of the pial basement membrane.
Conclusions:
- GPR56 plays a vital role in central nervous system development.
- Loss of GPR56 function leads to specific brain malformations.
- GPR56's function is primarily observed in the central nervous system despite its expression in various tissues.
Related Concept Videos
01:15G Protein-coupled Receptors
G Protein-Coupled Receptors or GPCRs are membrane-bound receptors that transiently associate with heterotrimeric G proteins and induce an appropriate response to sensory stimuli such as light, odors, hormones, cytokines, or neurotransmitters.
GPCRs are also called heptahelical, 7TM, or serpentine receptors, and consist of seven (H1-H7) transmembrane alpha-helices that span the bilayer to form a cylindrical core. The transmembrane helices are connected by three extracellular loops and three...
GPCRs are also called heptahelical, 7TM, or serpentine receptors, and consist of seven (H1-H7) transmembrane alpha-helices that span the bilayer to form a cylindrical core. The transmembrane helices are connected by three extracellular loops and three...
01:15G Protein-coupled Receptors
G Protein-Coupled Receptors or GPCRs are membrane-bound receptors that transiently associate with heterotrimeric G proteins and induce an appropriate response to sensory stimuli such as light, odors, hormones, cytokines, or neurotransmitters.
GPCRs are also called heptahelical, 7TM, or serpentine receptors, and consist of seven (H1-H7) transmembrane alpha-helices that span the bilayer to form a cylindrical core. The transmembrane helices are connected by three extracellular loops and three...
GPCRs are also called heptahelical, 7TM, or serpentine receptors, and consist of seven (H1-H7) transmembrane alpha-helices that span the bilayer to form a cylindrical core. The transmembrane helices are connected by three extracellular loops and three...
01:30Transducer Mechanism: G Protein–Coupled Receptors
G Protein–Coupled Receptors (GPCRs) are membrane-bound receptors that transiently associate with heterotrimeric G proteins and induce an appropriate response to various stimuli. GPCRs regulate critical physiological pathways and are excellent drug targets for treating diseases such as diabetes, cancer, obesity, depression, or Alzheimer's. Nearly 35% of approved drugs implement their therapeutic effects by selectively interacting with specific GPCRs.
GPCRs are also called heptahelical, 7TM, or...
GPCRs are also called heptahelical, 7TM, or...
01:21G-protein Coupled Receptors
G-protein coupled receptors are ligand binding receptors that indirectly affect changes in the cell. The actual receptor is a single polypeptide that transverses the cell membrane seven times creating intracellular and extracellular loops. The extracellular loops create a ligand specific pocket which binds to neurotransmitters or hormones. The intracellular loops holds onto the G-protein.
01:21G-protein Coupled Receptors
G-protein coupled receptors are ligand binding receptors that indirectly affect changes in the cell. The actual receptor is a single polypeptide that transverses the cell membrane seven times creating intracellular and extracellular loops. The extracellular loops create a ligand specific pocket which binds to neurotransmitters or hormones. The intracellular loops holds onto the G-protein.
01:09GPCRs Regulate Adenylyl Cylase Activity
Some GPCRs transmit signals through adenylyl cyclase (AC), a transmembrane enzyme. AC helps synthesize second messenger cyclic adenosine monophosphate (cAMP). AC catalyzes cyclization reaction and converts ATP to cAMP by releasing a pyrophosphate. The pyrophosphate is further hydrolyzed to phosphate by the enzyme pyrophosphatase, which drives cAMP synthesis to completion. However, cAMP is rapidly degraded to 5′ AMP by the enzymes phosphodiesterase (PDE), preventing overstimulation of cells.
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