GenBank-Updates@genbank.bio.net (05/08/91)
LOCUS HUMLDLRA1 97 bp ds-DNA PRI 08-MAY-1991
DEFINITION Human low density lipoprotein receptor gene, intron 4 (partial).
ACCESSION M14178
KEYWORDS low density lipoprotein receptor.
SEGMENT 1 of 2
SOURCE Human white blood cell DNA.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 97)
AUTHORS Hobbs,H.H., Brown,M.S., Goldstein,J.L. and Russell,D.W.
TITLE Deletion of exon encoding cysteine-rich repeat of low density
lipoprotein receptor alters its binding specificity in a subject
with familial hypercholesterolemia
JOURNAL J. Biol. Chem. 261, 13114-13120 (1986)
STANDARD simple staff_review
COMMENT Analysis of the LDL-receptor gene of a patient with familial
hypercholesterolemia (FH) revealed the deletion of exon 5 resulting
from a homologous recombination between repetitive Alu sequences of
intron 4 and intron 5.
FEATURES Location/Qualifiers
intron <1..>97
/note="LDL-receptor /nomgen='LDLR' /map='19p13.2-p13.1'
/hgml_locus_uid='LK0028L' intron D"
misc_feature 42..72
/note="deletion target sequence"
BASE COUNT 18 a 34 c 26 g 19 t
ORIGIN Chromosome 19
1 cagacacagg ctggtcttga actcctgggc tcaagcaatc ctcctgcctt ggcctcccaa
61 agtgctggga ttccaggcat gagccgctgc acccggc
//