6 S100 GENES ARE CLUSTERED ON HUMAN CHROMOSOME-1Q21 - IDENTIFICATION OF 2 GENES-CODING FOR THE 2 PREVIOUSLY UNREPORTED CALCIUM-BINDING PROTEIN-S100D AND PROTEIN-S100E
D. Engelkamp et al., 6 S100 GENES ARE CLUSTERED ON HUMAN CHROMOSOME-1Q21 - IDENTIFICATION OF 2 GENES-CODING FOR THE 2 PREVIOUSLY UNREPORTED CALCIUM-BINDING PROTEIN-S100D AND PROTEIN-S100E, Proceedings of the National Academy of Sciences of the United Statesof America, 90(14), 1993, pp. 6547-6551
The human genome contains large regions that are highly structured. Se
quence-related members of multigene families are often found in a clus
tered organization. Here we describe a previously unrecognized gene cl
uster composed of genes coding for calcium-binding proteins of the S10
0 family. The linkage of six S100 genes was established by pulsed-fiel
d gel electrophoresis, and a contiguous DNA sequence of 15 kilobases c
ontaining the full coding region of four different S100 genes was char
acterized. This is the tightest mammalian gene duster discovered so fa
r to our knowledge. Two additional S100 genes are located within the c
luster, both of which exhibit unique structural features when compared
with other S100 genes. The product of S100E is cysteine-rich, whereas
that of S100D contains a long hydrophobic N-terminal tail. The gene c
luster was assigned to chromosome 1q21, one of the bands showing rearr
angements in neoplasms at high frequency. The deregulated expression o
f some S100 genes in the duster during tumor progression suggests that
chromosomal abnormalities may influence the expression of S100 genes
in late stages of cancer, particularly in association with the formati
on of metastases.