A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.
Kallmann's syndrome (clinically characterized by hypogonadotropic hypogonadism and inability to smell) is caused by a defect in the migration of olfactory neurons, and neurons producing hypothalamic gonadotropin-releasing hormone. A gene has now been isolated from the critical region on Xp22.3 to which the syndrome locus has been assigned: this gene escapes X inactivation, has a homologue on the Y chromosome, and shows an unusual pattern of conservation across species. The predicted protein has significant similarities with proteins involved in neural cell adhesion and axonal pathfinding, as well as with protein kinases and phosphatases, which suggests that this gene could have a specific role in neuronal migration.
Franco
B
B
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
Guioli
S
S
Pragliola
A
A
Incerti
B
B
Bardoni
B
B
Tonlorenzi
R
R
Carrozzo
R
R
Maestrini
E
E
Pieretti
M
M
Taillon-Miller
P
P
Brown
C J
CJ
Willard
H F
HF
Lawrence
C
C
Graziella Persico
M
M
Camerino
G
G
Ballabio
A
A
D001483:Base Sequence; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002465:Cell Movement; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D004303:Dosage Compensation, Genetic; D016326:Extracellular Matrix Proteins; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D009420:Nervous System / Q000196:embryology; D000857:Olfaction Disorders / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D013577:Syndrome; D014960:X Chromosome
C076266:ANOS1 protein, human; D015815:Cell Adhesion Molecules; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins