Identification of deletion mutations and three new genes at the familial polyposis locus.
Small (100-260 kb), nested deletions were characterized in DNA from two unrelated patients with familial adenomatous polyposis coli (APC). Three candidate genes located within the deleted region were ascertained and a previous candidate gene, MCC, was shown to be located outside the deleted region. One of the new genes contained sequence identical to SRP19, the gene coding for the 19 kd component of the ribosomal signal recognition particle. The second, provisionally designated DP1 (deleted in polyposis 1), was found to be transcribed in the same orientation as MCC. Two other cDNAs, DP2 and DP3, were found to overlap, forming a single gene, DP2.5, that is transcribed in the same orientation as SRP19.
Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84132.
G
G
Joslyn
M
M
Carlson
A
A
Thliveris
H
H
Albertsen
L
L
Gelbert
W
W
Samowitz
J
J
Groden
J
J
Stevens
L
L
Spirio
M
M
Robertson
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D003110:Colonic Neoplasms / Q000235:genetics; D004247:DNA / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping
D004247:DNA