Related Concept Videos
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:11Genetic Lingo
Overview
02:41Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:43Incomplete 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.
01:31Translation
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
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
01:31Translation
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
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
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Null mutations in LTBP2 cause primary congenital glaucoma.
Manir Ali1, Martin McKibbin, Adam Booth
1Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK. medma@leeds.ac.uk
American Journal of Human Genetics
|April 14, 2009
Summary
Null mutations in the LTBP2 gene cause primary congenital glaucoma (PCG), an inherited eye condition leading to vision loss. This discovery identifies a new genetic cause for PCG, crucial for understanding and diagnosing this severe condition.
Area of Science:
- Ophthalmology
- Genetics
- Developmental Biology
Background:
- Primary congenital glaucoma (PCG) is an inherited condition causing high intraocular pressure in infants, potentially leading to irreversible vision loss.
- PCG is typically autosomal-recessive and has been genetically mapped to three loci (GLC3A, GLC3B, GLC3C), with only GLC3A's gene (CYP1B1) identified.
- The genetic basis for GLC3B and GLC3C remained elusive, hindering diagnosis and understanding of PCG pathogenesis.
Purpose of the Study:
- To identify the gene responsible for primary congenital glaucoma (PCG) in families where known genes were excluded.
- To investigate the role of LTBP2 in the etiology of PCG.
- To understand the function of LTBP2 in ocular development.
Main Methods:
- Genetic analysis of consanguineous families with PCG.
- Mutation screening of the LTBP2 gene.
- Gene mapping of LTBP2 to chromosome 14q24.3.
- Immunohistochemical analysis to determine LTBP2 localization in ocular tissues.
Main Results:
- Null mutations in LTBP2 were identified as a cause of PCG in Pakistani and Gypsy ethnic groups.
- LTBP2 was mapped to chromosome 14q24.3, proximal to the GLC3C locus.
- LTBP2 protein was localized to the anterior segment of the eye, specifically the ciliary body and ciliary processes.
Conclusions:
- LTBP2 mutations are a significant cause of primary congenital glaucoma.
- LTBP2 plays a critical role in the normal development of the anterior chamber of the eye.
- LTBP2 may function structurally in maintaining ciliary muscle tone, impacting intraocular pressure regulation.