Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.
Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. A DiGeorge syndrome patient bearing a balanced translocation whose breakpoint maps within the critical region has been previously described. We report the construction of a cosmid contig spanning the translocation breakpoint and the isolation of a gene mapping 10 kb telomeric to the breakpoint. This gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome.
Demczuk
S
S
Laboratoire de Génétique des Tumeurs, INSERM U 434, Institut Curie, Paris, France.
Aledo
R
R
Zucman
J
J
Delattre
O
O
Desmaze
C
C
Dauphinot
L
L
Jalbert
P
P
Rouleau
G A
GA
Thomas
G
G
Aurias
A
A
D000595:Amino Acid Sequence; D001483:Base Sequence; D002448:Cell Adhesion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D003001:Cloning, Molecular; D018076:DNA, Complementary; D004062:DiGeorge Syndrome / Q000235:genetics*; D006801:Humans; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D019038:Platelet Glycoprotein GPIb-IX Complex; D017386:Sequence Homology, Amino Acid; D014178:Translocation, Genetic
D018076:DNA, Complementary; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D019038:Platelet Glycoprotein GPIb-IX Complex; C094990:adhesion receptor