Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

Nature Genetics

Volumn 25, Issue 2, 2000, Pages 182-186

  Netchine, Irène ^a   Sobrier, Marie Laure ^a   Krude, Heiko ^b   Schnabel, Dirk ^b   Maghnie, Mohamed ^c   Marcos, Elisabeth ^a   Duriez, Bénédicte ^a   Cacheux, Valère ^a   Moers, Arpard V ^b   Goossens, Michel ^a   Grüters, Annette ^b   Amselem, Serge ^a  

^a HENRI MONDOR HOSPITAL   (France)

^b HUMBOLDT UNIVERSITY   (Germany)

^c UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; HYPOPHYSIS HORMONE;

AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME 9Q; FAMILIAL DISEASE; GENE ISOLATION; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; HORMONE DEFICIENCY; HUMAN; HYPOPHYSIS CELL; MISSENSE MUTATION; MOLECULAR CLONING; PHYLOGENY; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; CERVICAL VERTEBRAE; CHROMOSOMES, HUMAN, PAIR 9; CLONING, MOLECULAR; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; PITUITARY GLAND, ANTERIOR; PITUITARY HORMONES, ANTERIOR; ROTATION; SEQUENCE ALIGNMENT; SEQUENCE DELETION; SYNDROME;

EID: 0034040904     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/76041     Document Type: Article

References (20)

1. Burrows, H., Douglas, K., Seasholtz, A. & Camper, S. Genealogy of anterior pituitary gland: tracing a family tree. Trends Endocrinol. Metab. 10, 343-352 (1999).
2. Sheng, H.Z. et al. Specification of pituitary cell lineages by the LIM homeobox gene Lhx3. Science 272, 1004-1007 (1996).
3. Dawid, I.B., Breen, J.J. & Toyama, R. LIM domains: multiple roles as adapters and functional modifiers in protein interactions. Trends Genet. 14, 156-162 (1998).
4. Couly, G. & Le Douarin, N.M. The fate map of the cephalic neural primordium at the presomitic to the 3-somite stage in the avian embryo. Development 103, 101-113 (1988).
5. Eagleson, G.W. & Harris, W.A. Mapping of the presumptive brain regions in the neural plate of Xenopus laevis. J. Neurobiol. 21, 427-440 (1990).
6. Ikeda, H., Suzuki, J., Sasano, N. & Niizuma, H. The development and morphogenesis of the human pituitary gland. Anat. Embryol. 178, 327-336 (1988).
7. Japon, M.A., Rubinstein, M. & Low, M.J. In situ hybridization analysis of anterior pituitary hormone gene expression during fetal mouse development. J. Histochem. Cytochem. 42, 1117-1125 (1994).
8. Zhadanov, A.B., Copeland, N.G., Gilbert, D.J., Jenkins, N.A. & Westphal, H. Genomic structure and chromosomal localization of the mouse LIM/homeobox gene Lhx3. Genomics 27, 27-32 (1995).
9. Sanchez-Garcia, I. & Rabbitts, T.H. The LIM domain: a new structural motif found in zinc-finger-like proteins. Trends Genet. 10, 315-320 (1994).
10. Wu, W. et al. Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nature Genet. 18, 147-149 (1998).
11. Duquesnoy, P. et al. Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. FEBS Lett. 437, 216-220 (1998).
12. Bach, I. et al. P-Lim, a LIM homeodomain factor, is expressed during pituitary organ and cell commitment and synergizes with Pit-1. Proc. Natl Acad. Sci. USA 92, 2720-2724 (1995).
13. Mendonca, B.B. et al. Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. J. Clin. Endocrinol. Metab. 84, 942-945 (1999).
14. Sharma, K. et al. LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons. Cell 95, 817-828 (1998).
15. Parks, J.S., Brown, M.R., Hurley, D.L., Phelps, C.J. & Wajnrajch, M.P. Heritable disorders of pituitary development. J. Clin. Endocrinol. Metab. 84, 4362-4370 (1999).
16. Tsuchida, T. et al. Topographic organization of embryonic motor neurons defined by expression of LIM homeobox genes. Cell 79, 957-970 (1994).
17. Taira, M., Hayes, W.P., Otani, H. & Dawid, I.B. Expression of LIM class homeobox gene Xlim-3 in Xenopus development is limited to neural and neuroendocrine tissues. Dev. Biol. 159, 245-256 (1993).
18. Appel, B. et al. Motoneuron fate specification revealed by patterned LIM homeobox gene expression in embryonic zebrafish. Development 121, 4117-4125 (1995).
19. Thompson, J.D., Higgins, D.G. & Gibson, T.J. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res. 22, 4673-4680 (1994).
20. Pinkel, D., Straume, T. & Gray, J.W. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc. Natl Acad. Sci. USA 83, 2934-2938 (1986).