Mutations in the LHX3 gene cause dysregulation of pituitary and neural target genes that reflect patient phenotypes

Gene

Volumn 400, Issue 1-2, 2007, Pages 44-51

  Savage, Jesse J ^a,b   Hunter, Chad S ^a,b   Clark Sturm, Surilda L ^b   Jacob, Tanya M ^b   Pfaeffle, Roland W ^c   Rhodes, Simon J ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b INDIANA UNIVERSITY   (United States)

^c UNIVERSITY HOSPITAL LEIPZIG   (Germany)

Author keywords

Development; Growth; Homeodomain; Hormone; LIM

Indexed keywords

TRANSCRIPTION FACTOR LHX3;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; EMBRYO; FRAMESHIFT MUTATION; GENE ACTIVATION; GENE CONTROL; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; HYPOPHYSIS CELL; MOUSE; NEUROENDOCRINE DISEASE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN LOCALIZATION;

ANIMALS; CELLS, CULTURED; GENE EXPRESSION REGULATION; HOMEODOMAIN PROTEINS; MICE; MOTOR NEURONS; MUTANT PROTEINS; MUTATION; PHENOTYPE; PITUITARY GLAND; PITUITARY HORMONES; PROMOTER REGIONS (GENETICS); SPINAL CORD; TRANSCRIPTION FACTORS; TRANSFECTION;

MAMMALIA;

EID: 34548011458     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gene.2007.05.017     Document Type: Article

References (27)

1. 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. U. S. A. 92 (1995) 2720-2724
2. Bhangoo A.P., et al. Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency. J. Clin. Endocrinol. Metab. 91 (2006) 747-753
3. Bhasin M., and Raghava G.P. ESLpred: SVM-based method for subcellular localization of eukaryotic proteins using dipeptide composition and PSI-BLAST. Nucleic Acids Res. 32 (2004) W414-W419
4. Bridwell J.A., Price J.R., Parker G.E., McCutchan Schiller A., Sloop K.W., and Rhodes S.J. Role of the LIM domains in DNA recognition by the Lhx3 neuroendocrine transcription factor. Gene 277 (2001) 239-250
5. Dattani M.T. Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?. Clin. Endocrinol. (Oxf.) 63 (2005) 121-130
6. Drolet D.W., et al. TEF, a transcription factor expressed specifically in the anterior pituitary during embryogenesis, defines a new class of leucine zipper proteins. Genes Dev. 5 (1991) 1739-1753
7. Holbrook J.A., Neu-Yilik G., Hentze M.W., and Kulozik A.E. Nonsense-mediated decay approaches the clinic. Nat. Genet. 36 (2004) 801-808
8. Hunter C.S., and Rhodes S.J. LIM-homeodomain genes in mammalian development and human disease. Mol. Biol. Rep. 32 (2005) 67-77
9. Mullen R.D., et al. Roles of the LHX3 and LHX4 LIM-homeodomain factors in pituitary development. Mol. Cell. Endocrinol. 265-266 (2007) 190-195
10. Nair R., and Rost B. Mimicking cellular sorting improves prediction of subcellular localization. J. Mol. Biol. 348 (2005) 85-100
11. Netchine I., et al. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat. Genet. 25 (2000) 182-186
12. Parker G.E., Sandoval R.M., Feister H.A., Bidwell J.P., and Rhodes S.J. The homeodomain coordinates nuclear entry of the Lhx3 neuroendocrine transcription factor and association with the nuclear matrix. J. Biol. Chem. 275 (2000) 23891-23898
13. Pfaeffle R.W. Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation. J. Clin. Endocrinol. Metab. 92 (2007) 1909-1919
14. Rhodes S.J., et al. A tissue-specific enhancer confers Pit-1-dependent morphogen inducibility and autoregulation on the pit-1 gene. Genes Dev. 7 (1993) 913-932
15. Sharma K., et al. LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons. Cell 95 (1998) 817-828
16. Sheng H.Z., et al. Specification of pituitary cell lineages by the LIM homeobox gene Lhx3. Science 272 (1996) 1004-1007
17. Sheng H.Z., et al. Multistep control of pituitary organogenesis. Science 278 (1997) 1809-1812
18. Skerjanc I.S. Cardiac and skeletal muscle development in P19 embryonal carcinoma cells. Trends Cardiovasc. Med. 9 (1999) 139-143
19. Sloop K.W., Meier B.C., Bridwell J.L., Parker G.E., Schiller A.M., and Rhodes S.J. Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties. Mol. Endocrinol. 13 (1999) 2212-2225
20. Sloop K.W., Dwyer C.J., and Rhodes S.J. An isoform-specific inhibitory domain regulates the LHX3 LIM homeodomain factor holoprotein and the production of a functional alternate translation form. J. Biol. Chem. 276 (2001) 36311-36319
21. Sloop K.W., Parker G.E., Hanna K.R., Wright H.A., and Rhodes S.J. LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes. Gene 265 (2001) 61-69
22. Sobrier M.L., Attie-Bitach T., Netchine I., Encha-Razavi F., Vekemans M., and Amselem S. Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development. Gene Expr. Patterns 5 (2004) 279-284
23. Thaler J.P., Lee S.K., Jurata L.W., Gill G.N., and Pfaff S.L. LIM factor Lhx3 contributes to the specification of motor neuron and interneuron identity through cell-type-specific protein-protein interactions. Cell 110 (2002) 237-249
24. Thaler J.P., et al. A postmitotic role for Isl-class LIM homeodomain proteins in the assignment of visceral spinal motor neuron identity. Neuron 41 (2004) 337-350
25. West B.E., et al. Regulation of the follicle-stimulating hormone beta gene by the LHX3 LIM-homeodomain transcription factor. Endocrinology 145 (2004) 4866-4879
26. Yaden B.C., Savage J.J., Hunter C.S., and Rhodes S.J. DNA recognition properties of the LHX3b LIM homeodomain transcription factor. Mol. Biol. Rep. 32 (2005) 1-6
27. Zhu X., Lin C.R., Prefontaine G.G., Tollkuhn J., and Rosenfeld M.G. Genetic control of pituitary development and hypopituitarism. Curr. Opin. Genet. Dev. 15 (2005) 332-340