The human Surfeit locus contains at least six tightly clustered genes (Surf
-1 to Surf-6) of which five (Surf-1 to Surf-5) have been characterised and
found not to share any sequence homology. The organisation and juxtapositio
n of the Surfeit genes are conserved between human and mouse. The Surf-6 ge
ne that encodes a novel nucleolar-matrix protein with nucleic-acid binding
properties has been characterised in mouse. In this work, we have isolated
and analysed the human Surf-6 homologue and determined its genomic organisa
tion in the Surfeit locus. The human Surf-6 gene has five exons spread over
a distance of 4.3 kb and has features of a housekeeping gene being ubiquit
ously expressed, having its 5' end located within a CpG rich island and lac
king a canonical TATA box. The intragenic region between the 3' end of the
Surf-5 gene and the 5' end of the Surf-6 gene is 3.2 kb and contains a pseu
dogene of the ribosomal protein gene rpL21. The putative human Surf-6 prote
in is 361 amino acids long and includes motifs found in both the mouse and
fish Surf-6 homologues, which may underlie the functions of Surf-6. Three a
mino acid polymorphisms have been detected at codons 163, 175 and 311 by SS
CP analysis. (C) 2000 Elsevier Science B.V. All rights reserved.