publication . Doctoral thesis . 2015

Shedding light on canine pituitary dwarfism

Voorbij, A.M.W.Y.;
Open Access English
  • Published: 15 Sep 2015
  • Publisher: Utrecht University
  • Country: Netherlands
Pituitary dwarfism, associated with growth hormone deficiency, is an autosomal, recessively inherited disorder in shepherd dogs. Due to the serious nature of pituitary dwarfism and lack of efficient treatment, it is preferable to prevent dwarfs from being born by applying a correct breeding policy. However, because pituitary dwarfism is a recessively inherited disorder and carriers do not differ phenotypically from non-carriers, genetic testing is required to prevent mating of 2 carriers. But before such a DNA-test could be developed, the mutated gene had to be identified first. The results of this thesis show that a contraction of a 7-bp DNA repeat in intron 5 ...
Medical Subject Headings: endocrine system diseases
free text keywords: pituitary, dwarfism, DNA test, growth hormone, central hypothyroidism, LHX3, dogs
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Doctoral thesis . 2015
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45 references, page 1 of 3

1. Hunter CS, Rhodes SJ. LIM-homeodomain genes in mammalian development and human disease. Mol Biol Rep 2005;32:67-77.

2. Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, Moers A, Goossens M, Grüters A, Amselem S. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat Genet 2000;25:182-186. [OpenAIRE]

3. Bhangoo AP, Hunter CS, Savage JJ, Anhalt H, Pavlakis S, Walvoord EC, Ten S, Rhodes SJ. Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency. J Clin Endocrinol Metab 2006;91:747-753.

4. Pfaefle RW, Savage JJ, Hunter CS, Palme C, Ahlmann M, Kumar P, Bellone J, Schoenau E, Korsch E, Brämswig JH, Stobbe HM, Blum WF, Rhodes SJ. Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation. J Clin Endocrinol Metab 2007;92:1909-1919.

5. Rajab A, Kelberman D, de Castro SC, Biebermann H, Shaikh H, Pearce K. Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. Hum Mol Genet 2008;17:2150-2159.

6. Kriström B, Zdunek AM, Rydh A, Jonsson H, Sehlin P, Escher SA. A novel mutation in the LIM homeobox 3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations. J Clin Endocrinol Metab 2009;94:1154-1161.

7. Sobrier ML, Brachet C, Vié-Luton MP, Perez C, Copin B, Legendre M, Heinrichs C, Amselem S. Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations. J Clin Endocrinol Metab. 2012;97:E503-509. [OpenAIRE]

8. Sheng HZ, Zhadanov AB, Mosinger B Jr, Fujii T, Bertuzzi S, Grinberg A, Lee EJ, Huang SP, Mahon KA, Westphal H. Specification of pituitary cell lineages by the LIM homeobox gene Lhx3. Science 1996;272:1004-1007. [OpenAIRE]

9. Sheng HZ, Moriyama K, Yamashita T, Li H, Potter SS, Mahon KA, Westphal H. Multistep control of pituitary organogenesis. Science 1997;278:1809-1812. [OpenAIRE]

10. Banerjee-Basu S, Baxevanis AD. Molecular evolution of the homeodomain family of transcription factors. Nucleic Acids Res 2001;29:3258-3269. [OpenAIRE]

11. Wieringa B, Hofer E, Weissmann C. A minimal intron length but no specific internal sequence is required for splicing the large rabbit beta-globin intron. Cell 1984;37:915-925.

12. Ulfendahl PJ, Pettersson U, Akusjärvi G. Splicing of the adenovirus-2 E1A 13S mRNA requires a minimal intron length and specific intron signals. Nucleic Acids Res 1985;13:6299-6315. [OpenAIRE]

13. Peral B, Gamble V, San Milla´n JL, Strong C, Sloane-Stanley J, Moreno F, Harris PC. Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum Mol Genet 1995;4:569-574.

14. Peral B, Gamble V, Strong C, Ong AC, Sloane-Stanley J, Zerres K, Winearls CG, Harris PC. Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Am J Hum Genet 1997;60:1399-1410. [OpenAIRE]

16. Aufray C, Gayon R, Benraiss A, Martin N, Laurendeau I, Garaud J, Lucas B, Boitard C, Krief P. An 8-bp deletion in mNOTCH4 intron 10 leads to its retention in mRNA and to synthesis of a truncated protein. Exp Cell Res 2006;312:233-244.

45 references, page 1 of 3
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