GenBank-Updates@genbank.bio.net (09/22/90)
LOCUS HUMHEXBZ 554 bp ds-DNA PRI 22-SEP-1990
DEFINITION Human beta-N-acetylhexosaminidase (HEXB) gene, deletion junction.
ACCESSION M37470
KEYWORDS beta-N-acetylhexosaminidase.
SOURCE Human skin fibroblast GM317 cell line DNA, clone pHex-MuX2.0.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 554)
AUTHORS Neote,K., McInness,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 deletion junction cloned from a homozygous Sandhoff
patient (infantile form); deletion removes approximately 16 kb of
DNA including the HEXB promoter, exons 1 through 5 and part of
intron 5; the boundary of the deletion junction was within a 29 bp
segment of Alu sequences in 5' flanking region and intron 5,
suggesting that the deletion arose by Alu-Alu recombination; since
the promoter is deleted, there is no detectable mRNa or beta
subunit protein.
FEATURES from to/span description
rpt 87 412 recombined Alu repeat
rpt 87 97 direct repeat flanking 5' Alu sequence
site 98 120 Poly-A like structure in 5' Alu sequence
site 269 400 left arm of 3' Alu sequence
site 121 399 right arm of 5' Alu sequence
site 262 390 boundary of deletion junction
rpt 402 412 direct repeat flanking 3' Alu sequence
BASE COUNT 140 a 123 c 114 g 177 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 cagggtttca
301 ccatgttagc caggatgttc tcaatctcct gaccttgtga tccgcctgcc tcagcctccc
361 aagtgcatgg gattacaggt gtgagccacc acgcctggcc taaaaattat ttttacattt
421 acattaatac tctgaatttt ttctccaaaa gacagtcttg tcacttttaa gaaacagatg
481 cttagtgtaa aaagtttaaa caatataaat gtgcataaaa taggcagtca tcccataatt
541 tcatttgcca aaga
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