A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid

Elena Amendola; Remo Sanges; Antonella Galvan; Nina Dathan; Giacomo Manenti; Giuseppe Ferrandino; Francesca Maria Alvino; Tina Di Palma; Marzia Scarf̀o; Mariastella Zannini; Tommaso A. Dragani; Mario De Felice; Roberto Di Lauro; R. M

doi:10.1210/en.2009-1240

A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid

Elena Amendola, Remo Sanges, Antonella Galvan, Nina Dathan, Giacomo Manenti, Giuseppe Ferrandino, Francesca Maria Alvino, Tina Di Palma, Marzia Scarf̀o, Mariastella Zannini, Tommaso A. Dragani, Mario De Felice, Roberto Di Lauro, R. M

Fondazione IRCCS Istituto Nazionale dei Tumori

Research output: Contribution to journal › Article › peer-review

Abstract

We report here the mapping of a chromosomal region responsible for strain-specific development of congenital hypothyroidism in mice heterozygous for null mutations in genes encoding Nkx2-1/Titf1 and Pax8. The two strains showing a differential predisposition to congenital hypothyroidism contain several single-nucleotide polymorphisms in this locus, one of which leads to a nonsynonymous amino acid change in a highly conserved region of Dnajc17, a member of the type III heat-shock protein-40 (Hsp40) family. We demonstrate that Dnajc17 is highly expressed in the thyroid bud and had an essential function in development, suggesting an important role of this protein in organogenesis and/or function of the thyroid gland.

Original language	English
Pages (from-to)	1948-1958
Number of pages	11
Journal	Endocrinology
Volume	151
Issue number	4
DOIs	https://doi.org/10.1210/en.2009-1240
Publication status	Published - Apr 2010

ASJC Scopus subject areas

Endocrinology

Access to Document

10.1210/en.2009-1240

Cite this

Amendola, E., Sanges, R., Galvan, A., Dathan, N., Manenti, G., Ferrandino, G., Alvino, F. M., Di Palma, T., Scarf̀o, M., Zannini, M., Dragani, T. A., De Felice, M., Di Lauro, R., & M, R. (2010). A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid. Endocrinology, 151(4), 1948-1958. https://doi.org/10.1210/en.2009-1240

Amendola, E, Sanges, R, Galvan, A, Dathan, N, Manenti, G, Ferrandino, G, Alvino, FM, Di Palma, T, Scarf̀o, M, Zannini, M, Dragani, TA, De Felice, M, Di Lauro, R & M, R 2010, 'A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid', Endocrinology, vol. 151, no. 4, pp. 1948-1958. https://doi.org/10.1210/en.2009-1240

@article{6315a5090d0a4478b72d4deeabe45777,

title = "A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid",

abstract = "We report here the mapping of a chromosomal region responsible for strain-specific development of congenital hypothyroidism in mice heterozygous for null mutations in genes encoding Nkx2-1/Titf1 and Pax8. The two strains showing a differential predisposition to congenital hypothyroidism contain several single-nucleotide polymorphisms in this locus, one of which leads to a nonsynonymous amino acid change in a highly conserved region of Dnajc17, a member of the type III heat-shock protein-40 (Hsp40) family. We demonstrate that Dnajc17 is highly expressed in the thyroid bud and had an essential function in development, suggesting an important role of this protein in organogenesis and/or function of the thyroid gland.",

author = "Elena Amendola and Remo Sanges and Antonella Galvan and Nina Dathan and Giacomo Manenti and Giuseppe Ferrandino and Alvino, {Francesca Maria} and {Di Palma}, Tina and Marzia Scar{\`f}o and Mariastella Zannini and Dragani, {Tommaso A.} and {De Felice}, Mario and {Di Lauro}, Roberto and R. M",

year = "2010",

month = apr,

doi = "10.1210/en.2009-1240",

language = "English",

volume = "151",

pages = "1948--1958",

journal = "Endocrinology",

issn = "0013-7227",

publisher = "The Endocrine Society",

number = "4",

}

TY - JOUR

T1 - A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid

AU - Amendola, Elena

AU - Sanges, Remo

AU - Galvan, Antonella

AU - Dathan, Nina

AU - Manenti, Giacomo

AU - Ferrandino, Giuseppe

AU - Alvino, Francesca Maria

AU - Di Palma, Tina

AU - Scarf̀o, Marzia

AU - Zannini, Mariastella

AU - Dragani, Tommaso A.

AU - De Felice, Mario

AU - Di Lauro, Roberto

AU - M, R.

PY - 2010/4

Y1 - 2010/4

N2 - We report here the mapping of a chromosomal region responsible for strain-specific development of congenital hypothyroidism in mice heterozygous for null mutations in genes encoding Nkx2-1/Titf1 and Pax8. The two strains showing a differential predisposition to congenital hypothyroidism contain several single-nucleotide polymorphisms in this locus, one of which leads to a nonsynonymous amino acid change in a highly conserved region of Dnajc17, a member of the type III heat-shock protein-40 (Hsp40) family. We demonstrate that Dnajc17 is highly expressed in the thyroid bud and had an essential function in development, suggesting an important role of this protein in organogenesis and/or function of the thyroid gland.

AB - We report here the mapping of a chromosomal region responsible for strain-specific development of congenital hypothyroidism in mice heterozygous for null mutations in genes encoding Nkx2-1/Titf1 and Pax8. The two strains showing a differential predisposition to congenital hypothyroidism contain several single-nucleotide polymorphisms in this locus, one of which leads to a nonsynonymous amino acid change in a highly conserved region of Dnajc17, a member of the type III heat-shock protein-40 (Hsp40) family. We demonstrate that Dnajc17 is highly expressed in the thyroid bud and had an essential function in development, suggesting an important role of this protein in organogenesis and/or function of the thyroid gland.

UR - http://www.scopus.com/inward/record.url?scp=77950268599&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77950268599&partnerID=8YFLogxK

U2 - 10.1210/en.2009-1240

DO - 10.1210/en.2009-1240

M3 - Article

C2 - 20160132

AN - SCOPUS:77950268599

SN - 0013-7227

VL - 151

SP - 1948

EP - 1958

JO - Endocrinology

JF - Endocrinology

IS - 4

ER -

A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this