A GENE DELETED IN KALLMANNS SYNDROME SHARES HOMOLOGY WITH NEURAL CELL-ADHESION AND AXONAL PATH-FINDING MOLECULES

被引：685

作者：

FRANCO, B

GUIOLI, S

PRAGLIOLA, A

INCERTI, B

BARDONI, B

TONLORENZI, R

CARROZZO, R

MAESTRINI, E

PIERETTI, M

TAILLONMILLER, P

BROWN, CJ

WILLARD, HF

LAWRENCE, C

PERSICO, MG

CAMERINO, G

BALLABIO, A

机构：

[1] BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PLAZA,HOUSTON,TX 77030

[2] INST G GASLINI,GENOA,ITALY

[3] NAPLES UNIV,DEPT PEDIAT,I-80138 NAPLES,ITALY

[4] BAYLOR COLL MED,DEPT CELL BIOL,HOUSTON,TX 77030

[5] INT INST GENET & BIOPHYS,I-80125 NAPLES,ITALY

[6] WASHINGTON UNIV,SCH MED,CTR GENET MED,ST LOUIS,MO 63110

[7] STANFORD UNIV,MED CTR,SCH MED,DEPT GENET,STANFORD,CA 94305

[8] IST BIOCHIM GENET EVOLUZION ST,PAVIA,ITALY

来源：

NATURE | 1991年 / 353卷 / 6344期

关键词：

D O I：

10.1038/353529a0

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：529 / 536

页数：8

共 60 条

[1] MOLECULAR CHARACTERIZATION OF HUMAN X/Y TRANSLOCATIONS SUGGESTS THEIR ETIOLOGY THROUGH ABERRANT EXCHANGE BETWEEN HOMOLOGOUS SEQUENCES ON XP AND YQ [J].