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Related Concept Videos

Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

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TCTN3 mutations cause Mohr-Majewski syndrome.

Sophie Thomas1, Marine Legendre, Sophie Saunier

  • 1INSERM U781, Hôpital Necker-Enfants Malades, 75015 Paris, France; Université Paris Descartes, 75006 Paris Sorbonne, France.

American Journal of Human Genetics
|August 14, 2012
PubMed
Summary

Mutations in TCTN3 cause a severe form of orofacial digital syndrome (OFDS) with bone, kidney, and brain abnormalities. TCTN3 is crucial for the sonic hedgehog (SHH) signaling pathway, essential for development.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Medicine

Background:

  • Orofaciodigital syndromes (OFDSs) are a group of heterogeneous genetic disorders affecting oral, facial, and digital development, with 13 known subtypes.
  • These syndromes often involve complex phenotypes and require detailed genetic investigation to understand their underlying mechanisms.

Purpose of the Study:

  • To identify the genetic cause of an extreme form of OFDS associated with skeletal, renal, and neurological abnormalities.
  • To investigate the role of the identified gene in human ciliary function and developmental signaling pathways.

Main Methods:

  • Combined homozygosity mapping and exome ciliary sequencing were employed to identify causative mutations.
  • Analysis of a cohort of 184 individuals with various ciliopathies, including OFDS, Meckel, Joubert, and short rib polydactyly syndromes.

Main Results:

  • Truncating mutations in the TCTN3 gene were identified as the cause of OFDS IV (Mohr-Majewski syndrome).
  • Additional TCTN3 mutations were found in fetal cases with overlapping Meckel and OFDS IV syndromes, and in a family with Joubert syndrome.
  • TCTN3 was found to be essential for sonic hedgehog (SHH) signaling pathway transduction, evidenced by abnormal GLI3 processing in patient cells.

Conclusions:

  • TCTN3 mutations lead to a severe ciliopathy with features of Meckel and OFDS IV syndromes.
  • The transition zone protein TCTN3 plays a critical role in regulating the SHH signaling pathway.
  • Disruption of TCTN3 impacts human ciliary functions and developmental processes, highlighting its importance in preventing congenital anomalies.