The development of several organs and appendages is impaired in mice lacking Sp6.
SP6 belongs to the SP/KLF family of transcription factors, characterized by a DNA-binding domain composed of three zinc fingers of the C(2)H(2) type. The Sp6 gene generates two different transcripts, termed Sp6 and epiprofin, which differ in the first exon and encode the same SP6 protein. These transcripts are mainly expressed in the skin, the teeth, and the limb buds of embryos and also in the adult lungs. To gain insight into the biological function of the SP6 protein, we knocked out the gene by eliminating the full coding region. The resulting Sp6 null mice are nude, lack functional teeth, and present limb and lung malformations. We also showed that the identified abnormalities are associated with apoptotic misregulations. In conclusion, this work indicates that Sp6 plays a critical role in the development of several epithelium-containing organs or appendages, possibly by regulating apoptosis.
Hertveldt
Valérie
V
Université libre de Bruxelles, Institut de Biologie et de Médecine Moléculaires, Rue Profs Jeener & Brachet, 12, B-6041 Gosselies (Charleroi), Belgium.
Louryan
Stéphane
S
van Reeth
Thierry
T
Drèze
Pierre
P
van Vooren
Pascale
P
Szpirer
Josiane
J
Szpirer
Claude
C
D000505:Alopecia / Q000235:genetics; D000818:Animals; D017209:Apoptosis / Q000502:physiology; D000013:Congenital Abnormalities; D004817:Epidermis / Q000002:abnormalities; D005121:Extremities / Q000254:growth & development / Q000473:pathology; D018507:Gene Expression Regulation, Developmental; D051741:Kruppel-Like Transcription Factors / Q000235:genetics / Q000378:metabolism*; D017880:Limb Deformities, Congenital; D051379:Mice; D018345:Mice, Knockout; D009024:Morphogenesis / Q000235:genetics* / Q000502:physiology; D017689:Polydactyly / Q000235:genetics; D011650:Pulmonary Alveoli / Q000166:cytology / Q000473:pathology; D013576:Syndactyly / Q000235:genetics; D014070:Tooth / Q000254:growth & development / Q000502:physiology; D014071:Tooth Abnormalities
D051741:Kruppel-Like Transcription Factors; C498818:Sp6 protein, mouse