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Related Concept Videos

Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
G Protein-coupled Receptors01:15

G 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...
Transducer Mechanism: G Protein–Coupled Receptors01:30

Transducer 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.
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
G-protein Coupled Receptors01:21

G-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.

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Dynamic modulation of LH secretion by continuous kisspeptin infusion in healthy men.

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Related Experiment Video

Updated: Jul 16, 2026

Modified Yeast-Two-Hybrid System to Identify Proteins Interacting with the Growth Factor Progranulin
07:56

Modified Yeast-Two-Hybrid System to Identify Proteins Interacting with the Growth Factor Progranulin

Published on: January 17, 2012

Human genetics of GPR54.

Felecia Cerrato1, Stephanie B Seminara

  • 1Reproductive Endocrine Unit, Bartlett Hall Extension 5, Massachusetts General Hospital, Boston, MA 02114, USA.

Reviews in Endocrine & Metabolic Disorders
|March 6, 2007
PubMed
Summary

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare condition affecting sexual maturation. This review explores G protein-coupled receptor 54 (GPR54) gene mutations, their link to IHH, and the kisspeptin/GPR54 pathway.

Area of Science:

  • Endocrinology
  • Human Genetics
  • Molecular Biology

Background:

  • Idiopathic hypogonadotropic hypogonadism (IHH) presents as absent sexual maturation with low sex steroids and normal/low gonadotropins.
  • IHH exhibits significant genetic heterogeneity and phenotypic variability despite its rarity.
  • Loss-of-function mutations in the G protein-coupled receptor 54 (GPR54) gene are a known cause of IHH.

Purpose of the Study:

  • To review human genetic studies of GPR54.
  • To examine the phenotypic consequences of GPR54 mutations.
  • To explore the emerging roles of the kisspeptin/GPR54 pathway in IHH.

Main Methods:

  • Literature review of human genetics studies on GPR54.
  • Analysis of genotype-phenotype correlations in patients with GPR54 mutations.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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07:56

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Published on: January 17, 2012

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  • Synthesis of current research on the kisspeptin/GPR54 signaling pathway.

    • Main Results:

    • Mutations in GPR54, while not common, are crucial for understanding IHH.
    • GPR54 mutations provide insights into genotype-phenotype relationships in IHH.
    • The kisspeptin/GPR54 pathway plays a significant role in reproductive hormone regulation.

    Conclusions:

    • GPR54 mutations offer a valuable model for studying IHH pathogenesis.
    • Understanding the kisspeptin/GPR54 pathway is key to unraveling IHH.
    • Further research into GPR54 genetics and function can elucidate IHH mechanisms.