Abstract:
:Cystathionine beta-synthase [CBS; l-serine hydro-lyase (adding homocysteine), EC 4.2.1.22] catalyzes the first committed step of transsulfuration and is the enzyme deficient in classical homocystinuria. In this report, we describe the molecular cloning and the complete nucleotide sequence of the human CBS gene. We report a total of 28,046 nucleotides of sequence, which, in addition to the CBS gene, contains approximately 5 kb of the 5' flanking region. The human CBS gene contains 23 exons ranging from 42 to 209 bp. The 5' UTR is formed by 1 of 5 alternatively used exons and 1 invariably present exon, while the 3' UTR is encoded by exons 16 and 17. We also describe the identification of two alternatively used promoter regions that are GC rich (approximately 80%) and contain numerous putative binding sites for Sp1, Ap1, Ap2, and c-myb, but lack the classical TATA box. The CBS locus contains an unusually high number of Alu repeats, which may predispose this gene to deleterious rearrangements. Additionally, we report on a number of DNA sequence repeats that are polymorphic in North American and European Caucasians.
journal_name
Genomicsjournal_title
Genomicsauthors
Kraus JP,Oliveriusová J,Sokolová J,Kraus E,Vlcek C,de Franchis R,Maclean KN,Bao L,Bukovsk,Patterson D,Paces V,Ansorge W,Kozich Vdoi
10.1006/geno.1998.5437subject
Has Abstractpub_date
1998-09-15 00:00:00pages
312-24issue
3eissn
0888-7543issn
1089-8646pii
S0888754398954374journal_volume
52pub_type
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