THE CANDIDATE GENE FOR THE X-LINKED KALLMANN SYNDROME ENCODES A PROTEIN RELATED TO ADHESION MOLECULES

被引:560
作者
LEGOUIS, R
HARDELIN, JP
LEVILLIERS, J
CLAVERIE, JM
COMPAIN, S
WUNDERLE, V
MILLASSEAU, P
LEPASLIER, D
COHEN, D
CATERINA, D
BOUGUELERET, L
DELEMARREVANDEWAAL, H
LUTFALLA, G
WEISSENBACH, J
PETIT, C
机构
[1] NIH, NATL LIB MED, NATL CTR BIOTECHNOL INFORMAT, BETHESDA, MD 20892 USA
[2] GENETHON, F-91002 EVRY, FRANCE
[3] CEPH, F-75010 PARIS, FRANCE
[4] FREE UNIV AMSTERDAM HOSP, DEPT PAEDIAT, 1007 MB AMSTERDAM, NETHERLANDS
[5] CNRS, UNITE ONCOL VIRALE, F-94801 VILLEJUIF, FRANCE
关键词
D O I
10.1016/0092-8674(91)90193-3
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Kallmann syndrome associates hypogonadotropic hypogonadism and anosmia and is probably due to a defect in the embryonic migration of olfactory and GnRH-synthesizing neurons. The Kallmann gene had been localized to Xp22.3. In this study 67 kb of genomic DNA, corresponding to a deletion interval containing at least part of the Kallmann gene, were sequenced. Two candidate exons, identified by multiparameter computer programs, were found in a cDNA encoding a protein of 679 amino acids. This candidate gene (ADMLX) is interrupted in its 3' coding region in the Kallmann patient, in which the proximal end of the KAL deletion interval was previously defined. A 5' end deletion was detected in another Kallmann patient. The predicted protein sequence shows homologies with the fibronectin type III repeat. ADMLX thus encodes a putative adhesion molecule, consistent with the defect of embryonic neuronal migration.
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收藏
页码:423 / 435
页数:13
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