CFTR gene: Difference between revisions
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The Cystic Fibrosis Transmembrane Conductance Regulator [[Gene|gene]] (CFTR [[Gene|gene]]) codes for the CFTR [[Protein|protein]] which is heavily involved in the transport of [[Chloride|chloride]] ions across the [[Plasma membrane|plasma membrane]] <ref>Kerem B, Rommens J M, Buchanan J A, Markiewicz D, Cox T K, Chakravarti A, Buchwald M, Tsui L-C (1989)"Identification of the cystic fibrosis gene: genetic analysis." Science 245:1073-1080</ref><ref>Klug William S, Cummings Michael R, Spencer Charlotte, Palladino Michael. (2014)Concepts of Genetics, 10th edition, Pearson</ref>. The gene is found on the long 'q' arm of [[Autosomal chromosomes|autosomal]] chromosome 7 in the [[Human genome|human genome]], in position 31.2<ref>Genetics Home Reference (2008) CFTR. Available at: http://ghr.nlm.nih.gov/gene/CFTR (Accessed November 13, 2014)</ref>; it is a large [[Gene|gene]] with approximately 200,000 [[DNA bases|bases]], however has a large number of [[Intron|introns]] and only 37 [[Exon|exons]], so only codes for 1480 [[Amino acid|amino acids]]<ref>Wikipedia (2014) Human Genome. Available at: http://en.wikipedia.org/wiki/Human_genome (Accessed November 15, 2014)</ref>. | The Cystic Fibrosis Transmembrane Conductance Regulator [[Gene|gene]] (CFTR [[Gene|gene]]) codes for the CFTR [[Protein|protein]] which is heavily involved in the transport of [[Chloride|chloride]] ions across the [[Plasma membrane|plasma membrane]] <ref>Kerem B, Rommens J M, Buchanan J A, Markiewicz D, Cox T K, Chakravarti A, Buchwald M, Tsui L-C (1989)"Identification of the cystic fibrosis gene: genetic analysis." Science 245:1073-1080</ref><ref>Klug William S, Cummings Michael R, Spencer Charlotte, Palladino Michael. (2014)Concepts of Genetics, 10th edition, Pearson</ref>. The gene is found on the long 'q' arm of [[Autosomal chromosomes|autosomal]] chromosome 7 in the [[Human genome|human genome]], in position 31.2<ref>Genetics Home Reference (2008) CFTR. Available at: http://ghr.nlm.nih.gov/gene/CFTR (Accessed November 13, 2014)</ref>; it is a large [[Gene|gene]] with approximately 200,000 [[DNA bases|bases]], however has a large number of [[Intron|introns]] and only 37 [[Exon|exons]], so only codes for 1480 [[Amino acid|amino acids]]<ref>Wikipedia (2014) Human Genome. Available at: http://en.wikipedia.org/wiki/Human_genome (Accessed November 15, 2014)</ref>. | ||
[[Mutation|Mutations]] in both copies of the CFTR gene lead to [[Cystic Fibrosis|Cystic Fibrosis]]. The most common mutation is the ∆F508 mutation (deletion of three | [[Mutation|Mutations]] in both copies of the CFTR gene lead to [[Cystic Fibrosis|Cystic Fibrosis]]. The most common mutation is the ∆F508 mutation (deletion of three nucleotides coding for [[Phenylalanine|Phenylalanine]] (F) in position 508 of this gene)<ref>Orenstein, D. (1997) Cystic Fibrosis: A Guide for Patient and Family. Second Edition. New York: Lippincott-Raven.</ref>. Mutations in only one copy of the gene have been shown to give some protection against [[Typhoid Fever|Typhoid fever]]<ref>Ridley, M. (1999) Genome: The Autobiography of a Species in 23 Chapters. HarperCollins</ref>, however Delta F508 mutation of both copies of the gene results in the CFTR protein failing to reach the plasma membrane of the cell . <br> | ||
=== References === | === References === | ||
<references /> | <references /> | ||
Latest revision as of 13:00, 5 December 2016
The Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR gene) codes for the CFTR protein which is heavily involved in the transport of chloride ions across the plasma membrane [1][2]. The gene is found on the long 'q' arm of autosomal chromosome 7 in the human genome, in position 31.2[3]; it is a large gene with approximately 200,000 bases, however has a large number of introns and only 37 exons, so only codes for 1480 amino acids[4].
Mutations in both copies of the CFTR gene lead to Cystic Fibrosis. The most common mutation is the ∆F508 mutation (deletion of three nucleotides coding for Phenylalanine (F) in position 508 of this gene)[5]. Mutations in only one copy of the gene have been shown to give some protection against Typhoid fever[6], however Delta F508 mutation of both copies of the gene results in the CFTR protein failing to reach the plasma membrane of the cell .
References
- ↑ Kerem B, Rommens J M, Buchanan J A, Markiewicz D, Cox T K, Chakravarti A, Buchwald M, Tsui L-C (1989)"Identification of the cystic fibrosis gene: genetic analysis." Science 245:1073-1080
- ↑ Klug William S, Cummings Michael R, Spencer Charlotte, Palladino Michael. (2014)Concepts of Genetics, 10th edition, Pearson
- ↑ Genetics Home Reference (2008) CFTR. Available at: http://ghr.nlm.nih.gov/gene/CFTR (Accessed November 13, 2014)
- ↑ Wikipedia (2014) Human Genome. Available at: http://en.wikipedia.org/wiki/Human_genome (Accessed November 15, 2014)
- ↑ Orenstein, D. (1997) Cystic Fibrosis: A Guide for Patient and Family. Second Edition. New York: Lippincott-Raven.
- ↑ Ridley, M. (1999) Genome: The Autobiography of a Species in 23 Chapters. HarperCollins