Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2→q26.3

Kenneth H. Astrin, Cecilia A. Warner, Han Wook Yoo, Paul J. Goodfellow, Shih Feng Tsai, Robert J. Desnick

Research output: Contribution to journalArticlepeer-review

57 Scopus citations

Abstract

Uroporphyrinogen III synthase [UROS; hydroxymethylbilane hydro-lyase (cyclizing), EC 4.2.1.75] is the fourth enzyme in the human heme biosynthetic pathway. The recent isolation of the cDNA encoding human UROS facilitated its chromosomal localization. Human UROS sequences were specifically amplified by the polymerase chain reaction (PCR) from genomic DNA of two independent panels of human-rodent somatic cell hybrids. There was 100% concordance for the presence of the human UROS PCR product and human chromosome 10. For each of the other chromosomes, there was 19%-53% discordance with human UROS. The chromosomal assignment was confirmed by Southern hybridization analysis of DNA from somatic cell hybrids with the full-length UROS cDNA. Using human-rodent hybrids containing different portions of human chromosome 10, we assigned the UROS gene to the region 10q25.2→ q26.3.

Original languageEnglish
Pages (from-to)18-22
Number of pages5
JournalHuman Genetics
Volume87
Issue number1
DOIs
StatePublished - Jan 1991

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