Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase

• DOI: 10.1038/298682a0
• Publication Date: 2004-11-17T21:43:29Z
• Authors: S. P. Daiger; R. S. Wildin; T.-S. Su
• Keywords: Male; 0301 basic medicine; Sex Chromosomes; X Chromosome; Base Sequence; Chromosome Mapping; Argininosuccinate Synthase; Ligases; 03 medical and health sciences; Genes; Y Chromosome; Humans; Female

We have used a probe (pAS-1) to the human urea cycle enzyme argininosuccinate synthetase (AS) to detect individual variation in restriction enzyme digests of human DNA from lymphocytes, fibroblasts and transformed cell lines (including HeLa). pAS-1 is a 1.55 kilobase (kb) sequence of cDNA from poly(A)+ RNA cloned in pBR322; it represents more than 90% of the AS message1. At least 15 genomic fragments are detected with pAS-1 in DNA digested with restriction enzymes recognizing 6-base sequences2. This multiplicity of fragments is explained in part by the observation that AS-like sequences are found on more than seven human chromosomes3. We report here population data and gene dosage experiments demonstrating an AS-like sequence on the human Y chromosome and confirming an AS-like sequence on the human X chromosome.