![]() (1974) noted that the fact that SOD1 was elevated in trisomy 21, or Down syndrome ( 190685), added support to the location of the gene on chromosome 21.įeaster et al. SOD1 Dosage Effect in Trisomy 21 (Down Syndrome) (2002) mapped the canine Sod1 gene to chromosome 31 close to syntenic group 13 on the radiation hybrid map in the vicinity of the sodium/myoinositol transporter (SMIT) gene (SLC5A3 600444). (1987) used in situ hybridization on metaphase chromosomes to confirm SOD1 gene localization in the segment enclosing the distal part of chromosome 21q21 and 21q22.1. They concluded that the gene for SOD1 is located at 21q22.1. (1983) found normal levels of SOD1 in a patient with an interstitial deletion of chromosome 21 leading to monosomy for band q21. (1980) showed that a locus affecting SOD1 activity was closely linked to the H-2 cluster, suggesting that the locus may be regulatory in nature. (1980) demonstrated that the genes for soluble Sod1 and interferon sensitivity are syntenic in the mouse and located on mouse chromosome 16, which is homologous to part of human chromosome 21. (1973) mapped the SOD1 gene to chromosome 21. The deduced canine SOD1 protein contains 153 amino acids and shares more than 79% sequence identity with mammalian homologs.īy mouse-man somatic cell hybridization, Tan et al. (2002) sequenced, characterized, and mapped the canine SOD1 gene. (2000) designated the variants, which were found in both ALS patients and controls, LP1 (lacking part of exon 1), LP1P2 (lacking part of exon 1 and part of exon 2), LE2 (lacking entire exon 2), LE2E3 (lacking entire exons 2 and 3), and LP1E2E3 (lacking part of exon 1 and entire exons 2 and 3). ![]() The variants were expressed in a tissue-specific manner, including expression in brain, a region involved in amyotrophic lateral sclerosis (ALS 105400). (2000) identified 5 splice variants of SOD1. ![]() Both mRNAs encoded the same protein, which had functional activity in vitro.īy RT-PCR analysis, Hirano et al. Two mRNA transcripts of 0.5 and 0.7 kb were detected. The deduced 153-residue protein has a calculated molecular mass of approximately 18.5 kD. (1983) isolated clones corresponding to the human SOD1 gene. The 153-residue protein shares approximately 82% homology with the bovine protein. (1980) independently determined the amino acid structure of human superoxide dismutase-1. ![]()
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