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Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase.
Author(s) -
Leva D.,
LiemanHurwitz J.,
Dafni N.,
Wigderson M.,
Sherman L.,
Bernstein Y.,
LaverRudich Z.,
Danciger E.,
Stein O.,
Groner Y.
Publication year - 1985
Publication title -
the embo journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.484
H-Index - 392
eISSN - 1460-2075
pISSN - 0261-4189
DOI - 10.1002/j.1460-2075.1985.tb02320.x
Subject(s) - locus (genetics) , combinatorics , biology , genetics , gene , mathematics
The SOD‐1 gene on chromosome 21 and approximately 100 kb of chromosomal DNA from the 21q22 region have been isolated and characterized. The gene which is present as a single copy per haploid genome spans 11 kb of chromosomal DNA. Heteroduplex analysis and DNA sequencing reveals five rather small exons and four introns that interrupt the coding region. The donor sequence at the first intron contains an unusual variant dinucleotide 5′‐G‐C, rather than the highly conserved 5′‐GT. The unusual splice junction is functional in vivo since it was detected in both alleles of the SOD‐1 gene, which were defined by differences in the length of restriction endonuclease fragments (RFLPs) that hybridize to the cDNA probe. Genomic blots of human DNA isolated from cells trisomic for chromosome 21 (Down's syndrome patients) show the normal pattern of bands. At the 5′ end of gene there are the ‘TATA’ and ‘CAT’ promoter sequences as well as four copies of the ‐GGCGGG‐ hexanucleotide. Two of these ‐GC‐ elements are contained within a 13 nucleotide inverted repeat that could form a stem‐loop structure with stability of ‐33 kcal. The 3′‐non coding region of the gene contains five short open reading‐frames starting with ATG and terminating with stop codons.