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Related Concept Videos

The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
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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.
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Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

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LRIG2 mutations cause urofacial syndrome.

Helen M Stuart1, Neil A Roberts, Berk Burgu

  • 1Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.

American Journal of Human Genetics
|January 15, 2013
PubMed
Summary
This summary is machine-generated.

Urofacial syndrome (UFS) is linked to mutations in the LRIG2 gene, affecting bladder function and facial expression. This discovery may also shed light on non-syndromic bladder diseases.

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Area of Science:

  • Genetics and Molecular Biology
  • Urology
  • Developmental Biology

Background:

  • Urofacial syndrome (UFS), also known as Ochoa syndrome, is an autosomal-recessive disorder.
  • It presents with congenital urinary bladder dysfunction, risk of kidney failure, and characteristic facial abnormalities during emotional expression.
  • Previous research identified mutations in HPSE2 as a cause of UFS.

Purpose of the Study:

  • To investigate the genetic basis of Urofacial syndrome.
  • To explore the role of the LRIG2 gene in UFS and related bladder conditions.
  • To understand the involvement of LRIG2 and heparanase-2 in lower urinary tract development.

Main Methods:

  • Genetic analysis of UFS-affected individuals.
  • Identification and characterization of mutations in the LRIG2 gene.
  • Immunodetection of LRIG2 and heparanase-2 proteins in human fetal bladder tissue.

Main Results:

  • A subset of UFS patients harbor biallelic mutations in LRIG2.
  • Rare variants in LRIG2 are potentially associated with nonsyndromic bladder disease.
  • LRIG2 and heparanase-2 are expressed in nerve fascicles within the fetal bladder.

Conclusions:

  • Mutations in LRIG2 are a newly identified cause for a subset of Urofacial syndrome cases.
  • LRIG2 plays a role in the neural development of the lower urinary tract.
  • Further research into LRIG2 variants could advance understanding of bladder dysfunction.