The gene for X-linked Kallmann syndrome: a human neuronal migration defect

被引：27

作者：

Ballabio, Andrea ^{[1
]}

Camerino, Giovanna ^{[2
]}

机构：

[1] Baylor Coll Med, Inst Mol Genet, 1 Baylor Plaza, Houston, TX 77030 USA

[2] Biol Gen & Genet Med, I-27100 Pavia, Italy

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 1992年 / 2卷 / 03期

关键词：

D O I：

10.1016/S0959-437X(05)80152-2

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

A new gene from the distal short arm of the human X chromosome has recently been cloned and characterized. Mutations in this gene lead to the neuronal migration defect observed in Kallmann syndrome. Although there is no direct proof for the involvement of this gene in neuronal migration, significant similarities between its predicted protein product and neural adhesion molecules have been found. X-linked Kallmann syndrome represents the first example in vertebrates of a neuronal migration defect for which the gene has been isolated.

引用

页码：417 / 421

页数：5

共 38 条

[1] THE CELL-ADHESION MOLECULE CELL-CAM-105 IS AN ECTO-ATPASE AND A MEMBER OF THE IMMUNOGLOBULIN SUPERFAMILY [J].

AURIVILLIUS, M ;

HANSEN, OC ;

LAZREK, MBS ;

BOCK, E ;

OBRINK, B .

FEBS LETTERS, 1990, 264 (02) :267-269

[2] X-LINKED ICHTHYOSIS, DUE TO STEROID SULFATASE DEFICIENCY, ASSOCIATED WITH KALLMANN SYNDROME (HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA) - LINKAGE RELATIONSHIPS WITH XG AND CLONED DNA-SEQUENCES FROM THE DISTAL SHORT ARM OF THE X-CHROMOSOME [J].

BALLABIO, A ;

PARENTI, G ;

TIPPETT, P ;

MONDELLO, C ;

DIMAIO, S ;

TENORE, A ;

ANDRIA, G .

HUMAN GENETICS, 1986, 72 (03) :237-240

[3] 2 FAMILIES OF LOW-COPY-NUMBER REPEATS ARE INTERSPERSED ON XP22.3 - IMPLICATIONS FOR THE HIGH-FREQUENCY OF DELETIONS IN THIS REGION [J].

BALLABIO, A ;

BARDONI, B ;

GUIOLI, S ;

BASLER, E ;

CAMERINO, G .

GENOMICS, 1990, 8 (02) :263-270

[4] CONTIGUOUS GENE SYNDROMES DUE TO DELETIONS IN THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME [J].

BALLABIO, A ;

BARDONI, B ;

CARROZZO, R ;

ANDRIA, G ;

BICK, D ;

CAMPBELL, L ;

HAMEL, B ;

FERGUSONSMITH, MA ;

GIMELLI, G ;

FRACCARO, M ;

MARASCHIO, P ;

ZUFFARDI, O ;

GUIOLI, S ;

CAMERINO, G .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (24) :10001-10005

[5] DELETIONS OF THE STEROID SULFATASE GENE IN CLASSICAL X-LINKED ICHTHYOSIS AND IN X-LINKED ICHTHYOSIS ASSOCIATED WITH KALLMANN SYNDROME [J].

BALLABIO, A ;

SEBASTIO, G ;

CARROZZO, R ;

PARENTI, G ;

PICCIRILLO, A ;

PERSICO, MG ;

ANDRIA, G .

HUMAN GENETICS, 1987, 77 (04) :338-341

[6] A DELETION MAP OF THE HUMAN YQ11 REGION - IMPLICATIONS FOR THE EVOLUTION OF THE Y-CHROMOSOME AND TENTATIVE MAPPING OF A LOCUS INVOLVED IN SPERMATOGENESIS [J].

BARDONI, B ;

ZUFFARDI, O ;

GUIOLI, S ;

BALLABIO, A ;

SIMI, P ;

CAVALLI, P ;

GRIMOLDI, MG ;

FRACCARO, M ;

CAMERINO, G .

GENOMICS, 1991, 11 (02) :443-451

[7] MALE INFANT WITH ICHTHYOSIS, KALLMANN SYNDROME, CHONDRODYSPLASIA PUNCTATA, AND AN XP CHROMOSOME DELETION [J].

BICK, D ;

CURRY, CJR ;

MCGILL, JR ;

SCHORDERET, DF ;

BUX, RC ;

MOORE, CM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 33 (01) :100-107

[8]

BICK D, 1992, N ENGL J MED

[9] CORTICALLY EVOKED MOTOR-RESPONSES IN PATIENTS WITH XP22.3-LINKED KALLMANNS SYNDROME AND IN FEMALE GENE CARRIERS [J].

DANEK, A ;

HEYE, B ;

SCHROEDTER, R .

ANNALS OF NEUROLOGY, 1992, 31 (03) :299-304

[10] THE WDNM1 GENE-PRODUCT IS A NOVEL MEMBER OF THE 4-DISULFIDE CORE FAMILY OF PROTEINS [J].

DEAR, TN ;

KEFFORD, RF .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1991, 176 (01) :247-254

← 1 2 3 4 →