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 //