Genetic analysis of adrenal absence: agenesis and aplasia

被引:55
作者
Else, T [1 ]
Hammer, GD [1 ]
机构
[1] Univ Michigan, Dept Internal Med, Div Metab, Ann Arbor, MI 48109 USA
关键词
D O I
10.1016/j.tem.2005.10.004
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The adrenal cortex shares a common embryological heritage with the gonad and kidney: all are derived from components of the urogenital ridge. Adrenocortical specification from this embryonic structure and the ultimate organogenesis of the adrenal gland are directed by the sequential expression of transcriptional regulators, with later development being additionally mediated by endocrine hormones that regulate organ maintenance and tissue differentiation. Recent advancements in the field of human and mouse genetics have accumulated evidence for a host of novel factors involved in these processes, such as the hedgehog signaling network and peptides derived from proopiomelanocortin.
引用
收藏
页码:458 / 468
页数:11
相关论文
共 96 条
[11]   A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman [J].
Biason-Lauber, A ;
Konrad, D ;
Navratil, F ;
Schoenle, EJ .
NEW ENGLAND JOURNAL OF MEDICINE, 2004, 351 (08) :792-798
[12]   Characterization of a serine protease that cleaves pro-γ-melanotropin at the adrenal to stimulate growth [J].
Bicknell, AB ;
Lomthaisong, K ;
Woods, RJ ;
Hutchinson, EG ;
Bennett, HPJ ;
Gladwell, RT ;
Lowry, PJ .
CELL, 2001, 105 (07) :903-912
[13]   The bovine CYP17 promoter contains a transcriptional regulatory element cooperatively bound by TALE homeodomain proteins [J].
Bischof, LJ ;
Kagawa, N ;
Waterman, MR .
ENDOCRINE RESEARCH, 1998, 24 (3-4) :489-495
[14]   Differential requirement for steroidogenic factor-1 gene dosage in adrenal development versus endocrine function [J].
Bland, ML ;
Fowkes, RC ;
Ingraham, HA .
MOLECULAR ENDOCRINOLOGY, 2004, 18 (04) :941-952
[15]   Pallister-Hall syndrome phenotype in mice mutant for Gli3 [J].
Böse, J ;
Grotewold, L ;
Rüther, U .
HUMAN MOLECULAR GENETICS, 2002, 11 (09) :1129-1135
[16]   Wnt signaling: a common theme in animal development [J].
Cadigan, KM ;
Nusse, R .
GENES & DEVELOPMENT, 1997, 11 (24) :3286-3305
[17]   PBX PROTEINS DISPLAY HEXAPEPTIDE-DEPENDENT COOPERATIVE DNA-BINDING WITH A SUBSET OF HOX PROTEINS [J].
CHANG, CP ;
SHEN, WF ;
ROZENFELD, S ;
LAWRENCE, HJ ;
LARGMAN, C ;
CLEARY, ML .
GENES & DEVELOPMENT, 1995, 9 (06) :663-674
[18]   SUMO modification of repression domains modulates function of nuclear receptor 5A1 (steroidogenic factor-1) [J].
Chen, WY ;
Lee, WC ;
Hsu, NC ;
Huang, F ;
Chung, BC .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (37) :38730-38735
[19]   FAMILIAL GLUCOCORTICOID DEFICIENCY ASSOCIATED WITH POINT MUTATION IN THE ADRENOCORTICOTROPIN RECEPTOR [J].
CLARK, AJL ;
MCLOUGHLIN, L ;
GROSSMAN, A .
LANCET, 1993, 341 (8843) :461-462
[20]   DAX1 and its network partners: exploring complexity in development [J].
Clipsham, R ;
McCabe, ERB .
MOLECULAR GENETICS AND METABOLISM, 2003, 80 (1-2) :81-120