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Titolo:
X-LINKED KALLMANN SYNDROME - A NEURONAL TARGETING DEFECT IN THE OLFACTORY SYSTEM
Autore:
LUTZ B; RUGARLI EI; EICHELE G; BALLABIO A;
Indirizzi:
BAYLOR COLL MED,VERNA & MARRS MCLEAN DEPT BIOCHEM,1 BAYLOR PLAZA HOUSTON TX 77030 BAYLOR COLL MED,INST MOLEC GENET HOUSTON TX 77030
Titolo Testata:
FEBS letters
fascicolo: 1-2, volume: 325, anno: 1993,
pagine: 128 - 134
SICI:
0014-5793(1993)325:1-2<128:XKS-AN>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
AMINO-ACID SEQUENCE; HYPOGONADOTROPIC HYPOGONADISM; EXTRACELLULAR-MATRIX; ADHESION MOLECULES; STEROID SULFATASE; NEURITE OUTGROWTH; 4-DISULFIDE CORE; CELL; PROTEIN; ANOSMIA;
Keywords:
KALLMANN SYNDROME; GENETIC DISEASE; OLFACTORY BULB; MITRAL CELL; PURKINJE CELL; RETINA; CARTILAGE; NEURONAL TARGETING; 4-DISULFIDE-CORE DOMAIN; FIBRONECTIN TYPE-III REPEAT; CHICK EMBRYO; IN-SITU HYBRIDIZATION;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
44
Recensione:
Indirizzi per estratti:
Citazione:
B. Lutz et al., "X-LINKED KALLMANN SYNDROME - A NEURONAL TARGETING DEFECT IN THE OLFACTORY SYSTEM", FEBS letters, 325(1-2), 1993, pp. 128-134

Abstract

Kallmann syndrome is a human genetic disorder characterized by the association of hypogonadism with the inability to smell, and is due to defects in the olfactory system development (i.e. incomplete migration of olfactory axons and of gonadotropin-releasing hormone producing neurons from the olfactory epithelium to the forebrain; aplasia or hypoplasia of olfactory bulbs and tracts). The human X-linked Kallmann syndrome gene and its chicken homologue have been cloned. Their protein products contain fibronectin type III repeats and a 'four-disulfide-core'domain also found in molecules that are involved in neural development. Consistent with the human phenotype, the chicken Kallmann gene is expressed in the developing olfactory bulb. At present the molecular and cellular mechanism of action of the Kallmann syndrome gene product is unknown. Based on expression studies and the characteristic domains of the predicted protein, it is hypothesized that the protein may be involved in targeting olfactory axons to the bulb. Alternatively, the Kallmann protein could be an extracellular matrix component required for the proper formation of the multilayered structure of the olfactory bulb.

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Documento generato il 27/11/20 alle ore 01:29:16