Human Prop‐1: cloning, mapping, genomic structure

FEBS Letters

Dastot, Florence²  Roy, Anne²  Salah, Nermine¹  Bougnères, Pierre³  Netchine, Irène²  Teinturier, Cécile³  Duquesnoy, Philippe²  Goossens, Michel²  Cacheux, Valère²  Ghali, Isis¹  Chaussain, Jean-Louis³  Hafez, Mona¹  Amselem, Serge² 

[1] Cairo University Children Hospital, Cairo, Egypt;Laboratoire de Génétique, INSERM U.468, Hôpital Mondor, 94010 Créteil, France;Service d'Endocrinologie Pédiatrique, Hôpital St-Vincent de Paul, 75014 Paris, France

关键词: Prop-1;    Combined pituitary hormone deficiency;    Mutation;    Chromosomal localization;   

DOI  :  10.1016/S0014-5793(98)01234-4

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

Prop-1 is a newly isolated pituitary-specific paired-like homeodomain transcription factor whose cDNA sequence is well known in mouse. To study its involvement in human combined pituitary hormone deficiency (CPHD), we have isolated the human cDNA ortholog and determined the exon/intron organization and chromosomal localization of the human gene. A Prop-1 defect was characterized in three CPHD families. One missense mutation (R73C) involves a residue conserved in 95% of the more than 400 homeodomain proteins so far identified; in vitro splicing assays demonstrated the functional importance of the second defect, whereas the remaining mutation is a frameshift. Given the disease phenotype documented in the patients, these data, which will facilitate molecular investigations in other patients, demonstrate the crucial role of Prop-1 in the proper development of somatotrophs, lactotrophs, thyreotrophs and gonadotrophs.

【 授权许可】

Unknown