Mutations in human gonadotropin genes and their physiologic significance in puberty and reproduction

被引：20

作者：

Layman, LC ^{[1
]}

机构：

[1] Univ Chicago, Dept Obstet & Gynecol, Sect Reprod Endocrinol & Infertil, Chicago, IL 60637 USA

来源：

FERTILITY AND STERILITY | 1999年 / 71卷 / 02期

关键词：

gonadotropin; Kallmann syndrome; adrenal hypoplasia congenita; gonadotropin deficiency; idiopathic hypogonadotropic hypogonadism; genetics; gonadotropin receptor; premature ovarian failure; precocious puberty;

D O I：

10.1016/S0015-0282(98)00431-2

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: Human gene mutations provide an opportunity to study the pathophysiology of the disease process as well as normal physiology. The purpose of the present report was to review known human gene mutations that affect gonadotropin secretion. Design: A retrospective analysis of studies of human gene mutations that affect hypothalamic, pituitary, and gonadal function was conducted. Result(s): Mutations have been identified for at least three genes that cause inherited hypogonadotropic hypogonadism. In addition, gene mutations for the beta-subunits of FSH and LH have been characterized. Both activating and inactivating mutations have been identified for the gonadotropin receptor genes. Conclusion(s): The identification of human gene mutations has furthered our understanding of the normal processes of pubertal development and fertility. (Fertil Steril(R) 1999,71.201-18. (C) 1999 by American Society for Reproductive Medicine.).

引用

页码：201 / 218

页数：18

共 77 条

[1] ISOLATION OF THE GENE AND HYPOTHALAMIC CDNA FOR THE COMMON PRECURSOR OF GONADOTROPIN-RELEASING-HORMONE AND PROLACTIN RELEASE-INHIBITING FACTOR IN HUMAN AND RAT [J].

ADELMAN, JP ;

MASON, AJ ;

HAYFLICK, JS ;

SEEBURG, PH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (01) :179-183

[2]

AITTOMAKI K, 1994, AM J HUM GENET, V54, P844

[3] Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene [J].

Aittomaki, K ;

Herva, R ;

Stenman, UH ;

Juntunen, K ;

Ylostalo, P ;

Hovatta, O ;

delaChapelle, A .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (10) :3722-3726

[4] MUTATION IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE [J].

AITTOMAKI, K ;

LUCENA, JLD ;

PAKARINEN, P ;

SISTONEN, P ;

TAPANAINEN, J ;

GROMOLL, J ;

KASKIKARI, R ;

SANKILA, EM ;

LEHVASLAIHO, H ;

ENGEL, AR ;

NIESCHLAG, E ;

HUHTANIEMI, I ;

DELACHAPELLE, A .

CELL, 1995, 82 (06) :959-968

[5] INTRAGENIC DELETION OF THE KALIG-1 GENE IN KALLMANNS SYNDROME [J].

BICK, D ;

FRANCO, B ;

SHERINS, RJ ;

HEYE, B ;

PIKE, L ;

CRAWFORD, J ;

MADDALENA, A ;

INCERTI, B ;

PRAGLIOLA, A ;

MEITINGER, T ;

BALLABIO, A .

NEW ENGLAND JOURNAL OF MEDICINE, 1992, 326 (26) :1752-1755

[6] CLONING AND CHARACTERIZATION OF THE HUMAN GNRH RECEPTOR [J].

CHI, L ;

ZHOU, W ;

PRIKHOZHAN, A ;

FLANAGAN, C ;

DAVIDSON, JS ;

GOLEMBO, M ;

ILLING, N ;

MILLAR, RP ;

SEALFON, SC .

MOLECULAR AND CELLULAR ENDOCRINOLOGY, 1993, 91 (1-2) :R1-R6

[7]

Crowley W F Jr, 1985, Recent Prog Horm Res, V41, P473

[8] A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor [J].

deRoux, N ;

Young, J ;

Misrahi, M ;

Genet, R ;

Chanson, P ;

Schaison, G ;

Milgrom, E .

NEW ENGLAND JOURNAL OF MEDICINE, 1997, 337 (22) :1597-1602

[9] IDENTIFICATION OF A MAJOR UP-STREAM TRANSCRIPTION START SITE FOR THE HUMAN PROGONADOTROPIN-RELEASING HORMONE GENE USED IN REPRODUCTIVE TISSUES AND CELL-LINES [J].

DONG, KW ;

YU, KL ;

ROBERTS, JL .

MOLECULAR ENDOCRINOLOGY, 1993, 7 (12) :1654-1666

[10] KAL, A GENE MUTATED IN KALLMANNS-SYNDROME, IS EXPRESSED IN THE FIRST TRIMESTER OF HUMAN-DEVELOPMENT [J].

DUKE, VM ;

WINYARD, PJD ;

THOROGOOD, P ;

SOOTHILL, P ;

BOULOUX, PMG ;

WOOLF, AS .

MOLECULAR AND CELLULAR ENDOCRINOLOGY, 1995, 110 (1-2) :73-79

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