Partial structure of the human H-protein gene.
In a span of approximately 13 kb, two genomic fragments showing an obvious overlap encoded the 1,192 base pair (bp) cDNA sequence for human H-protein. Because of the close similarity in the genomic organization comprised of five exons to that for the chicken H-protein gene, this region was assigned to the true H-protein gene in human. Primer extension analysis suggested and S1 protection analysis confirmed that at least one additional exon for the 74 bases-long 5' untranslated region in H-protein mRNA exists as the presumable first exon. None of the 5.0- and 5.5-kb SacI and the 5.2-kb EcoRI fragments which were undetectable in the genomes of patients with nonketotic hyperglycinemia was included in the true H-protein gene.
Koyata
H
H
Department of Biochemistry, Toyama Medical and Pharmaceutical University School of Medicine, Japan.
Hiraga
K
K
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002645:Chickens; D003001:Cloning, Molecular; D005091:Exons; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid
D002352:Carrier Proteins; D012333:RNA, Messenger