Establishment of the genomic structure and identification of thirteen single-nucleotide polymorphisms in the human RECK gene.
The human RECK gene, mapped at 9p13-->p12, is known as a tumor suppressor gene and as a key regulator of extracellular matrix integrity and angiogenesis. We have established the entire genomic structure of this gene, which spans more than 87 kb and consists of 21 exons and 20 introns, and identified thirteen single nucleotide polymorphisms (SNPs). Four SNPs were identified in the coding region of the gene (exons 1, 9, 13 and 15), and the remaining nine in introns 5, 8, 10, 12, 15 and 17. The availability of the genomic organization of the RECK gene and the identification of polymorphisms throughout its entire genome will facilitate the evaluation of its role in several disorders and also contribute to the assignment of genes to the several diseases mapped to this chromosomal region.
Eisenberg
I
I
Unit of Molecular Biology, Hadassah Hospital, The Hebrew University-Hadassah Medical School, Jerusalem, Israel.
Hochner
H
H
Sadeh
M
M
Argov
Z
Z
Mitrani-Rosenbaum
S
S
D001483:Base Sequence; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D005091:Exons; D058851:GPI-Linked Proteins; D006801:Humans; D007438:Introns; D008562:Membrane Glycoproteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D058851:GPI-Linked Proteins; D008562:Membrane Glycoproteins; C115460:RECK protein, human; D004247:DNA