3+4+Supplementum/2012 - Společnost pro pojivové tkáně

plasia), Stickler syndrome and some other
rare bone dysplasias have in spite of various
clinical picture one common cause – mutation
in the gene COL2A1 of type II collagen.
To be able to understand and to solve the
problems of our patients with collagenopathies
better forced us to direct our interest
at the structure, function and evolutionary
origin of collagen. Collagen is the main component
of connective tissue, one of the most
important components of the extracellular
matrix of animals. Collagen is created of the
triple helix which consists of three polypeptide
chains. It is characterized by repeating
sequences Gly –X-Y, where X and Y are
often proline and hydroxyproline. So far,
28 types of collagen have been identified
and described. The most common types are
fibrous collagens (e.g. type I and II). Some
collagen types form networks (e.g type IV
collagen forms basal lamina in all animals).
Despite of its complex structure, collagen
belongs to the oldest proteins in the world.
It is present in all animals and in Porifera,
therefore we estimate its age to 800 millions
of years. Proteins containing collagen
domains were found in unicellular organisms
Choanoflagellata (Monosiga). These
organisms can be regarded as predecessors
of collagen in multicellular organisms. The
evolution of extracellular matrix passed in
particular phylogenetic lineages independently.
Maximum boom was achieved in
vertebrates. The authors outline the evolution
of connective tissue of vertebrates,
the development of cartilage and bone and
the genetic mechanisms controlling skeletal
development.
References
1. HOORNAERT KP, MARIK I, KOZLOWSKI
K, COLE T, LE MERRER M, LEROY JG, COUCKE
ambul_centrum@volny.cz
P, SILLENCE D, MORTIER GR. Czech dysplasia
metatarsal type: another type II collagen disorder.
Eur J Hum Genet, 15, 2007, s. 1269–1275.
2. KOZLOWSKI K, MARIK I, MARIKOVA
O, ZEMKOVA D, KUKLIK M. Czech dysplasia
metatarsal type. Am J Med Genet, 2004, 129A,
s. 87–91.
3. WARMAN ML, CORMIER-DAIRE V, HALL
CH, KRAKOW D, LACHMAN R, LEMERRER M.
Nosology and Classification of Genetic Skeletal
Disorders – 2010 Revision&. Am J Med Genet,
155A, 2011, č. 5, s. 943–968.
aBSTRakT
THe GeneTiCS Of BOneS, TeeTH,
JOinTS and TendOnS
Kuklík M.
Genetic department, Ambulant centre for patients
with locomotor defects, Prague
Department of Biology, 3rd Medical Faculty, UK
Prague. CZ
Stomatological Clinic, 1st Medical Faculty, UK,
Prague, CZ
E-mail: honza.kuklik@volny.cz
We present there the overview of genes
of many nosological units and our experience
and opinions in this area.
achondroplasia and
hypochondroplasia
Gene FGFR3 location at 4p16.3. The
gene is expressed in developing cartilage
and in the CNS. Normal receptor function
is negative regulation of endochondral
growth. different mutations in FGFR3
result in a spectrum of short stature skeletal
dysplasias. Single child with compound
heterozygosity has been reported.
323