GenBank-Updates@genbank.bio.net (09/22/90)
LOCUS HUMHEXBX 444 bp ds-DNA PRI 22-SEP-1990 DEFINITION Human beta-N-acetylhexosaminidase (HEXB) gene, 5' flank. ACCESSION M37468 KEYWORDS beta-N-acetylhexosaminidase. SOURCE Human leukocyte DNA, clone pHexBSEO.6 and pHexBHX5. ORGANISM Homo sapiens Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia; Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae. REFERENCE 1 (bases 1 to 444) AUTHORS Neote,K., McInnes,B., Mahuran,D.J. and Gravel,R.A. TITLE Structure and distribution of an ALU-type deletion mutations in Sandhoff disease JOURNAL J. Clin. Invest. (1990) In press STANDARD full staff_entry COMMENT Draft entry and computer-readable sequence for [1] kindly submitted by K.S.Neote, 01-AUG-1990. Sequence of the 5' flanking region of the HEXB gene, approximately 2 kb upstream of exon 1; includes an Alu-repeat that is involved in a deletion mutation. FEATURES from to/span description rpt 87 415 Alu repeat rpt 87 97 direct repeat flanking Alu sequence rpt 405 415 direct repeat flanking Alu sequence site 98 120 Poly-A like structure in Alu sequence site 270 404 left arm of Alu sequence site 121 269 right arm of Alu sequence BASE COUNT 93 a 106 c 109 g 136 t ORIGIN Chromosome 5. 1 acctctttat ggctggctcc tacagaaaga cacggcaaga ttagagtaat atttctagat 61 tttatgactg gctttggggg cataggggct ctagtttctt cttttttttt ttttctttct 121 gagacagagt cttactctgt ggcacaggct ggagtgcagt ggtgcaatct cggctcactg 181 caacctctgc ctcccaggtt caagtgattc ttgtgcctca gccacccaag tagctgggat 241 tacgggcgtg tgccagcaca tccagctaat ttttgtattt ttagtagaga tgaggtttca 301 ccatgttggc caggctggtc tcgaactcct ggccttaagt gatccacctg ccttggcctc 361 ccaaagtgct gggattacag gcgtgagcca ccatgcccaa cagtggctct agtttctgtg 421 acccattttg aaaaagagga attc //