Self-catalytic DNA Depurination Underlies Human β-Globin Gene Mutations at Codon 6 That Cause Anemias and Thalassemias. Alvarez-Dominguez, J. R., Amosova, O., & Fresco, J. R. Journal of Biological Chemistry, 288(16):11581–11589, April, 2013. MAG ID: 1965380434doi abstract bibtex The human β-globin gene contains an 18-nucleotide coding strand sequence centered at codon 6 and capable of forming a stem-loop structure that can self-catalyze depurination of the 5′G residue of that codon. The resultant apurinic lesion is subject to error-prone repair, consistent with the occurrence about this codon of mutations responsible for 6 anemias and β-thalassemias and additional substitutions without clinical consequences. The 4-residue loop of this stem-loop-forming sequence shows the highest incidence of mutation across the gene. The loop and first stem base pair-forming residues appeared early in the mammalian clade. The other stem-forming segments evolved more recently among primates, thereby conferring self-depurination capacity at codon 6. These observations indicate a conserved molecular mechanism leading to β-globin variants underlying phenotypic diversity and disease.
@article{alvarez-dominguez_self-catalytic_2013,
title = {Self-catalytic {DNA} {Depurination} {Underlies} {Human} β-{Globin} {Gene} {Mutations} at {Codon} 6 {That} {Cause} {Anemias} and {Thalassemias}},
volume = {288},
doi = {10.1074/jbc.m113.454744},
abstract = {The human β-globin gene contains an 18-nucleotide coding strand sequence centered at codon 6 and capable of forming a stem-loop structure that can self-catalyze depurination of the 5′G residue of that codon. The resultant apurinic lesion is subject to error-prone repair, consistent with the occurrence about this codon of mutations responsible for 6 anemias and β-thalassemias and additional substitutions without clinical consequences. The 4-residue loop of this stem-loop-forming sequence shows the highest incidence of mutation across the gene. The loop and first stem base pair-forming residues appeared early in the mammalian clade. The other stem-forming segments evolved more recently among primates, thereby conferring self-depurination capacity at codon 6. These observations indicate a conserved molecular mechanism leading to β-globin variants underlying phenotypic diversity and disease.},
number = {16},
journal = {Journal of Biological Chemistry},
author = {Alvarez-Dominguez, Juan R. and Amosova, Olga and Fresco, Jacques R.},
month = apr,
year = {2013},
doi = {10.1074/jbc.m113.454744},
pmcid = {3630879},
pmid = {23457306},
note = {MAG ID: 1965380434},
pages = {11581--11589},
}
Downloads: 0
{"_id":"NDoRnWAtgZ8XXja3b","bibbaseid":"alvarezdominguez-amosova-fresco-selfcatalyticdnadepurinationunderlieshumanglobingenemutationsatcodon6thatcauseanemiasandthalassemias-2013","author_short":["Alvarez-Dominguez, J. R.","Amosova, O.","Fresco, J. R."],"bibdata":{"bibtype":"article","type":"article","title":"Self-catalytic DNA Depurination Underlies Human β-Globin Gene Mutations at Codon 6 That Cause Anemias and Thalassemias","volume":"288","doi":"10.1074/jbc.m113.454744","abstract":"The human β-globin gene contains an 18-nucleotide coding strand sequence centered at codon 6 and capable of forming a stem-loop structure that can self-catalyze depurination of the 5′G residue of that codon. The resultant apurinic lesion is subject to error-prone repair, consistent with the occurrence about this codon of mutations responsible for 6 anemias and β-thalassemias and additional substitutions without clinical consequences. The 4-residue loop of this stem-loop-forming sequence shows the highest incidence of mutation across the gene. The loop and first stem base pair-forming residues appeared early in the mammalian clade. The other stem-forming segments evolved more recently among primates, thereby conferring self-depurination capacity at codon 6. These observations indicate a conserved molecular mechanism leading to β-globin variants underlying phenotypic diversity and disease.","number":"16","journal":"Journal of Biological Chemistry","author":[{"propositions":[],"lastnames":["Alvarez-Dominguez"],"firstnames":["Juan","R."],"suffixes":[]},{"propositions":[],"lastnames":["Amosova"],"firstnames":["Olga"],"suffixes":[]},{"propositions":[],"lastnames":["Fresco"],"firstnames":["Jacques","R."],"suffixes":[]}],"month":"April","year":"2013","pmcid":"3630879","pmid":"23457306","note":"MAG ID: 1965380434","pages":"11581–11589","bibtex":"@article{alvarez-dominguez_self-catalytic_2013,\n\ttitle = {Self-catalytic {DNA} {Depurination} {Underlies} {Human} β-{Globin} {Gene} {Mutations} at {Codon} 6 {That} {Cause} {Anemias} and {Thalassemias}},\n\tvolume = {288},\n\tdoi = {10.1074/jbc.m113.454744},\n\tabstract = {The human β-globin gene contains an 18-nucleotide coding strand sequence centered at codon 6 and capable of forming a stem-loop structure that can self-catalyze depurination of the 5′G residue of that codon. The resultant apurinic lesion is subject to error-prone repair, consistent with the occurrence about this codon of mutations responsible for 6 anemias and β-thalassemias and additional substitutions without clinical consequences. The 4-residue loop of this stem-loop-forming sequence shows the highest incidence of mutation across the gene. The loop and first stem base pair-forming residues appeared early in the mammalian clade. The other stem-forming segments evolved more recently among primates, thereby conferring self-depurination capacity at codon 6. These observations indicate a conserved molecular mechanism leading to β-globin variants underlying phenotypic diversity and disease.},\n\tnumber = {16},\n\tjournal = {Journal of Biological Chemistry},\n\tauthor = {Alvarez-Dominguez, Juan R. and Amosova, Olga and Fresco, Jacques R.},\n\tmonth = apr,\n\tyear = {2013},\n\tdoi = {10.1074/jbc.m113.454744},\n\tpmcid = {3630879},\n\tpmid = {23457306},\n\tnote = {MAG ID: 1965380434},\n\tpages = {11581--11589},\n}\n\n","author_short":["Alvarez-Dominguez, J. R.","Amosova, O.","Fresco, J. R."],"key":"alvarez-dominguez_self-catalytic_2013","id":"alvarez-dominguez_self-catalytic_2013","bibbaseid":"alvarezdominguez-amosova-fresco-selfcatalyticdnadepurinationunderlieshumanglobingenemutationsatcodon6thatcauseanemiasandthalassemias-2013","role":"author","urls":{},"metadata":{"authorlinks":{}},"html":""},"bibtype":"article","biburl":"https://bibbase.org/zotero/kountour","dataSources":["MnayAXw3qciX87bz7"],"keywords":[],"search_terms":["self","catalytic","dna","depurination","underlies","human","globin","gene","mutations","codon","cause","anemias","thalassemias","alvarez-dominguez","amosova","fresco"],"title":"Self-catalytic DNA Depurination Underlies Human β-Globin Gene Mutations at Codon 6 That Cause Anemias and Thalassemias","year":2013}