Isolation of a novel mildly repetitive DNA sequence that is predominantly located at the terminus of the short arm of chromosome 4 near the Huntington disease gene. 1989

M R Altherr, and B Smith, and M E MacDonald, and L Hall, and J J Wasmuth
Department of Biological Chemistry, College of Medicine, University of California, Irvine 92717.

A novel mildly repetitive DNA sequence that is reiterated approximately 20 times in the human genome has been isolated and characterized. Most of the repeat units are localized very near the terminus of the short arm of chromosome 4 (4p) in the region known to contain the Huntington disease (HD) gene. A cloned probe that detects the repeated sequence reveals a restriction fragment length polymorphism that is close to and/or distal to the most distal genetic locus on 4p. This probe, therefore, provides a new genetic marker very close to and possibly flanking the HD gene. In addition, this probe should prove very useful for detailed physical mapping of the most distal region of 4p around the HD gene. The few (two or three) copies of this repeat not located near the terminus of 4p are located near the ends of two other chromosomes, 14 and 21.

UI MeSH Term Description Entries
D012091 Repetitive Sequences, Nucleic Acid Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES). DNA Repetitious Region,Direct Repeat,Genes, Selfish,Nucleic Acid Repetitive Sequences,Repetitive Region,Selfish DNA,Selfish Genes,DNA, Selfish,Repetitious Region, DNA,Repetitive Sequence,DNA Repetitious Regions,DNAs, Selfish,Direct Repeats,Gene, Selfish,Repeat, Direct,Repeats, Direct,Repetitious Regions, DNA,Repetitive Regions,Repetitive Sequences,Selfish DNAs,Selfish Gene
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002894 Chromosomes, Human, Pair 4 A specific pair of GROUP B CHROMOSOMES of the human chromosome classification. Chromosome 4
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D006224 Cricetinae A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS. Cricetus,Hamsters,Hamster
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006816 Huntington Disease A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) Huntington Chorea,Juvenile Huntington Disease,Akinetic-Rigid Variant of Huntington Disease,Chorea, Chronic Progressive Hereditary (Huntington),Chronic Progressive Hereditary Chorea (Huntington),Huntington Chronic Progressive Hereditary Chorea,Huntington Disease, Akinetic-Rigid Variant,Huntington Disease, Juvenile,Huntington Disease, Juvenile-Onset,Huntington Disease, Late Onset,Huntington's Chorea,Huntington's Disease,Juvenile-Onset Huntington Disease,Late-Onset Huntington Disease,Progressive Chorea, Chronic Hereditary (Huntington),Progressive Chorea, Hereditary, Chronic (Huntington),Akinetic Rigid Variant of Huntington Disease,Chorea, Huntington,Chorea, Huntington's,Huntington Disease, Akinetic Rigid Variant,Huntington Disease, Juvenile Onset,Huntington Disease, Late-Onset,Juvenile Onset Huntington Disease,Late Onset Huntington Disease

Related Publications

M R Altherr, and B Smith, and M E MacDonald, and L Hall, and J J Wasmuth
November 1989, Genomics,
M R Altherr, and B Smith, and M E MacDonald, and L Hall, and J J Wasmuth
December 1998, Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology,
M R Altherr, and B Smith, and M E MacDonald, and L Hall, and J J Wasmuth
November 1985, American journal of human genetics,
M R Altherr, and B Smith, and M E MacDonald, and L Hall, and J J Wasmuth
April 1984, Biochemical and biophysical research communications,
M R Altherr, and B Smith, and M E MacDonald, and L Hall, and J J Wasmuth
October 1982, The Journal of biological chemistry,
M R Altherr, and B Smith, and M E MacDonald, and L Hall, and J J Wasmuth
January 1985, Cytogenetics and cell genetics,
M R Altherr, and B Smith, and M E MacDonald, and L Hall, and J J Wasmuth
February 1990, Nucleic acids research,
M R Altherr, and B Smith, and M E MacDonald, and L Hall, and J J Wasmuth
January 1987, Cytogenetics and cell genetics,
M R Altherr, and B Smith, and M E MacDonald, and L Hall, and J J Wasmuth
October 1987, American journal of human genetics,
M R Altherr, and B Smith, and M E MacDonald, and L Hall, and J J Wasmuth
March 1981, Diabetes,
Copied contents to your clipboard!