A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations

Article Abstract:

Implications for evolution of modern humans and for the source of myotonic dystrophy mutations can be found in results of a global haplotype analysis of the myotonic dystrophy locus. Haplotypes made up of the (CTG) sub n repeat and of several flanking markers and the myotonic dystrophy (DM) locus have been studied in normal persons from 25 populations, made up of 5 African, 3 European, 2 Middle Eastern, 3 Pacific/Australo-Melanesian, 6 Amerindian and 6 East Asian groups. Haplotype diversity and linkage disequilibrium patterns indicate a recent African-origin modern human evolution. An original mutation event seems to have led up to DM-causing alleles and to have been in a population ancestral to non-Africans before modern humans migrated from Africa.

Australia, Europe, Israel, Asia, North America, Africa, Oceania, Emigration and immigration, Neuromuscular diseases, Population genetics, Jews in Ethiopia

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Biological implications of the DNA structures associated with diseases causing triplet repeats

Article Abstract:

Many neurodegenerative diseases are the result of expansion of triplet CTG, CGG or GAA repeats in DNA, a remarkable and recent revelation that has given rise to much research. More than 12 human genetic diseases are associated with expansion of the repeats. Expansion of triplet repeats has not been identified in genetically tractable organisms such as E. coli, yeast, Drosophila or bacteriophage. Of interest as well are interaction of proteins with triplet-repeat DNA sequences and several models for accounting for expansion and instability of triplet-repeat sequences. Recent work focused on understanding particular structural DNA properties related to CTG, CGG and GAA repeats is reviewed.

Physiological aspects, Gene mutations, Gene mutation, DNA repair, Escherichia coli, DNA damage, Nervous system, Proteins, RNA polymerases, Mutation (Biology), Mutation, Chromosome replication, Fragile X syndrome, Huntington's chorea, Huntington's disease, DNA polymerases, Friedreich's ataxia, Nerve degeneration

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Understanding human DNA sequence variation

Article Abstract:

Data on normal genetic variation are analyzed from a population perspective using results on multiple individual DNA-based polymorphisms, many clustered in haplotypes, studied in multiple populations representing all major geographic regions of the world. These data support a hypothesis for human dispersal around the world and refine the understanding of population structures and genetic relationships.

Product information, Science & research, Biological Product (except Diagnostic) Manufacturing, Drugs, Deoxyribonucleic Acid, Analysis, Testing, DNA, Genetic polymorphisms, Genetic variation

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