Book Reviews:: PATHOLOGY

Hadfield, G.

doi:10.1093/oxfordjournals.bmb.a073312

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“…Detailed restriction mapping and hybridization to the cDNA as well as heteroduplex analyses indicated that four overlapping phage clones designated XA-2, XB-1, XF and X)5-1 originated from the SOD-I chromosomal locus ( Figure 2). This region was enlarged by several rounds of 'chromosome walking' (see Hadfield 1983) using both libraries so that a total of -100 kb of chromosomal DNA from the 21q22.1 segment were isolated ( Figure 2). Experiments aimed to detect the SOD-I neighboring gene by hybridizing Northern blots with 32plabeled genomic fragments have yielded, so far, negative results.…”

Section: Introductionmentioning

confidence: 99%

Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase.

Levanon¹,

Lieman-Hurwitz²,

Dafni³

et al. 1985

The EMBO Journal

245

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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.

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Section: Introductionmentioning

confidence: 99%