Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.
Rieger syndrome (RIEG) is an autosomal-dominant human disorder that includes anomalies of the anterior chamber of the eye, dental hypoplasia and a protuberant umbilicus. We report the human cDNA and genomic characterization of a new homeobox gene, RIEG, causing this disorder. Six mutations in RIEG were found in individuals with the disorder. The cDNA sequence of Rieg, the murine homologue of RIEG, has also been isolated and shows strong homology with the human sequence. In mouse embryos Rieg mRNA localized in the periocular mesenchyme, maxillary and mandibular epithelia, and umbilicus, all consistent with RIEG abnormalities. The gene is also expressed in Rathke's pouch, vitelline vessels and the limb mesenchyme. RIEG characterization provides opportunities for understanding ocular, dental and umbilical development and the pleiotropic interactions of pituitary and limb morphogenesis.
Semina
E V
EV
f1partment of Pediatrics, University of Iowa, Iowa City 52242, USA.
Reiter
R
R
Leysens
N J
NJ
Alward
W L
WL
Small
K W
KW
Datson
N A
NA
Siegel-Bartelt
J
J
Bierke-Nelson
D
D
Bitoun
P
P
Zabel
B U
BU
Carey
J C
JC
Murray
J C
JC
D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D000867:Anterior Chamber / Q000002:abnormalities; D001483:Base Sequence; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D018076:DNA, Complementary; D005314:Embryonic and Fetal Development / Q000235:genetics; D005091:Exons; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D051761:Paired Box Transcription Factors; D017386:Sequence Homology, Amino Acid; D013577:Syndrome; D014071:Tooth Abnormalities; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D014472:Umbilicus / Q000002:abnormalities; D000097577:Homeobox Protein PITX2
D018076:DNA, Complementary; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C101485:homeobox protein PITX1; C433629:homeobox protein PITX3