GenBank-Updates@genbank.bio.net (12/20/90)
LOCUS HUMHEXBX 444 bp ds-DNA PRI 120-DEC-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 mutation in
Sandhoff disease
JOURNAL J. Clin. Invest. 86, 1524-1531 (1990)
STANDARD full staff_entry
COMMENT Draft entry and computer-readable sequence for [J. Clin. Invest.
(1990) In press] 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 Location/Qualifiers
repeat_region 87..415
/note="Alu repeat"
repeat_region 87..97
/note="direct repeat flanking Alu sequence"
misc_feature 98..120
/note="Poly-A like structure in Alu sequence"
misc_feature 121..269
/note="right arm of Alu sequence"
misc_feature 270..404
/note="left arm of Alu sequence"
repeat_region 405..415
/note="direct repeat flanking 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
//GenBank-Updates@genbank.bio.net (12/22/90)
LOCUS HUMHEXBX 444 bp ds-DNA PRI 22-DEC-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 mutation in
Sandhoff disease
JOURNAL J. Clin. Invest. 86, 1524-1531 (1990)
STANDARD full staff_entry
COMMENT Draft entry and computer-readable sequence for [J. Clin. Invest.
(1990) In press] 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 Location/Qualifiers
repeat_region 87..415
/note="Alu repeat"
repeat_region 87..97
/note="direct repeat flanking Alu sequence"
misc_feature 98..120
/note="Poly-A like structure in Alu sequence"
misc_feature 121..269
/note="right arm of Alu sequence"
misc_feature 270..404
/note="left arm of Alu sequence"
repeat_region 405..415
/note="direct repeat flanking 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
//