195
©2003, European Journal of Histochemistry
Defensins are a family of host defence peptides that play an
important role in the innate immunity of mammalian and
avian species. In humans, four β-defensins have been iso-
lated so far, corresponding to the products of the genes
DEFB1 (h-BD1, GenBank accession number NM_005218);
DEFB4 (h-Bd2, NM_004942.2), DEFB103 (h-BD3,
NM_018661); and DEFB104 (hBD4, NM_080389) map-
ping on chromosome 8p23.22. We have localized β-
defensin genes on metaphasic chromosomes of great apes
and several non-human primate species to determine their
physical mapping. Using fluorescent in situ hybridization and
BAC probes containing the four β-defensin genes, we have
mapped the homologous regions to the β-defensin genes on
chromosome 8p23-p.22 in non-human primates, while no
signals were detected on prosimians chromosomes.
Key words: Innate immunity, molecular evolution, FISH,
homology.
Correspondence: Sergio Crovella, Reproduction and
Development Science Department, University of Trieste,
via dell'Istria 65/1, 34137 Trieste, Italy.
Phone: international +39.040.3785538. Fax: international
+39.040.3785540. E-mail: crovella@burlo.trieste.it
Paper accepted on January 26, 2004
European Journal of Histochemistry
2004; vol. 48 issue 2 [Apr-Jun]: 195-200
Localization of β-defensin genes in non human primates
M. Ventura,
1
M. Boniotto,
2
M. Pazienza,
1
V. Palumbo,
2
M.F. Cardone,
1
M. Rocchi,
1
A. Tossi,
4
A. Amoroso,
2,3
S. Crovella
2,3
1
University of Bari, DAPEG Genetics Section, Bari;
2
University of Trieste, Reproduction and Development
Science Department, Trieste;
3
Genetic Service, Children Hospital Burlo Garofolo, Trieste;
4
University of
Trieste, Department of Biochemistry, Biophysics and Chemistry of Macromolecules, Trieste, Italy
I
n humans, four β-defensins have been isolated
and well characterized so far: i) DEFB1 (h-
BD1, GenBank accession number
NM_005218) is constitutively expressed in kidney
tubules and at lower levels in the pancreas, lungs
and genitourinary tract (Bensch et al. 1995;
Schonwetter et al. 1995; Diamond et al.1996; Zhao
et al. 1996; Goldman et al. 1997); ii) DEFB4 (h-
Bd2, NM_004942.2) is primarily induced in skin
and other epithelia during inflamation (Harder et
al. 1997b; Hiratsuka et al. 1998; Liu et al. 1998;
Mathews et al. 1999); iii) DEFB103 (h-BD3,
NM_018661) is secreted by keratinocytes and
epithelial cells of the respiratory tract after inflam-
matory stimuli or after contact with Gram-negative
or Gram-positive bacteria (Harder et al. 1997a)
and iv) DEFB104 (hBD4, NM_080389), whose
expression seems to be mainly in the in testis, stom-
ach, uterus, neutrophils, thyroid, lung and kidney
(Garcia et al. 2001).
A lot of studies indicate that these molecules
could play an important role in host defence, having
both a direct, broad spectrum but salt sensitive
antimicrobial activity (Lehrer and Ganz, 2002), and
also playing a role in mobilizing other components
of innate or adaptive immunity (Yang et al.,2002).
Twenty eight other putative β-defensin genes have
been identified in the human genome, using a bioin-
formatic technique, based primarily on the 6-cys-
teine motif present in these molecules (Schutte et
al., 2002).
Schutte et al. (2002) discovered five conserved b-
defensin gene clusters in human and analogous clus-
ters in mouse, using a computational search strate-
gy: they identified the putative second exons of 28
new human and 43 new mouse β-defensin genes
organized in five syntenic chromosomal regions.
Within each cluster, the similarity of gene sequences
and organization suggested each cluster pair arose
from a common ancestor and was retained because
of conserved functions. Other authors (Semple et
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