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WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

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WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. / Kim, Hyung-Goo; Ahn, Jang-Won; Kurth, Ingo; Ullmann, Reinhard; Kim, Hyun-Taek; Kulharya, Anita; Ha, Kyung-Soo; Itokawa, Yasuhide; Meliciani, Irene; Wenzel, Wolfgang; Lee, Deresa; Rosenberger, Georg; Ozata, Metin; Bick, David P; Sherins, Richard J; Nagase, Takahiro; Tekin, Mustafa; Kim, Soo-Hyun; Kim, Cheol-Hee; Ropers, Hans-Hilger; Gusella, James F; Kalscheuer, Vera; Choi, Cheol Yong; Layman, Lawrence C.

In: AM J HUM GENET, Vol. 87, No. 4, 4, 2010, p. 465-479.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Kim, H-G, Ahn, J-W, Kurth, I, Ullmann, R, Kim, H-T, Kulharya, A, Ha, K-S, Itokawa, Y, Meliciani, I, Wenzel, W, Lee, D, Rosenberger, G, Ozata, M, Bick, DP, Sherins, RJ, Nagase, T, Tekin, M, Kim, S-H, Kim, C-H, Ropers, H-H, Gusella, JF, Kalscheuer, V, Choi, CY & Layman, LC 2010, 'WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.', AM J HUM GENET, vol. 87, no. 4, 4, pp. 465-479. <http://www.ncbi.nlm.nih.gov/pubmed/20887964?dopt=Citation>

APA

Kim, H-G., Ahn, J-W., Kurth, I., Ullmann, R., Kim, H-T., Kulharya, A., Ha, K-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., Ozata, M., Bick, D. P., Sherins, R. J., Nagase, T., Tekin, M., Kim, S-H., Kim, C-H., ... Layman, L. C. (2010). WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. AM J HUM GENET, 87(4), 465-479. [4]. http://www.ncbi.nlm.nih.gov/pubmed/20887964?dopt=Citation

Vancouver

Kim H-G, Ahn J-W, Kurth I, Ullmann R, Kim H-T, Kulharya A et al. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. AM J HUM GENET. 2010;87(4):465-479. 4.

Bibtex

@article{4d41547c4e1f40efb89f1685e7ed7419,
title = "WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.",
abstract = "By defining the chromosomal breakpoint of a balanced t(10;12) translocation from a subject with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal subjects, we have identified WDR11 as a gene involved in human puberty. We found six patients with a total of five different heterozygous WDR11 missense mutations, including three alterations (A435T, R448Q, and H690Q) in WD domains important for propeller formation and protein-protein interaction. In addition, we discovered that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfactory neurons, and that missense alterations reduce or abolish this interaction. Our findings suggest that impaired pubertal development in these patients results from a deficiency of productive WDR11 protein interaction.",
author = "Hyung-Goo Kim and Jang-Won Ahn and Ingo Kurth and Reinhard Ullmann and Hyun-Taek Kim and Anita Kulharya and Kyung-Soo Ha and Yasuhide Itokawa and Irene Meliciani and Wolfgang Wenzel and Deresa Lee and Georg Rosenberger and Metin Ozata and Bick, {David P} and Sherins, {Richard J} and Takahiro Nagase and Mustafa Tekin and Soo-Hyun Kim and Cheol-Hee Kim and Hans-Hilger Ropers and Gusella, {James F} and Vera Kalscheuer and Choi, {Cheol Yong} and Layman, {Lawrence C}",
year = "2010",
language = "Deutsch",
volume = "87",
pages = "465--479",
journal = "AM J HUM GENET",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",

}

RIS

TY - JOUR

T1 - WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

AU - Kim, Hyung-Goo

AU - Ahn, Jang-Won

AU - Kurth, Ingo

AU - Ullmann, Reinhard

AU - Kim, Hyun-Taek

AU - Kulharya, Anita

AU - Ha, Kyung-Soo

AU - Itokawa, Yasuhide

AU - Meliciani, Irene

AU - Wenzel, Wolfgang

AU - Lee, Deresa

AU - Rosenberger, Georg

AU - Ozata, Metin

AU - Bick, David P

AU - Sherins, Richard J

AU - Nagase, Takahiro

AU - Tekin, Mustafa

AU - Kim, Soo-Hyun

AU - Kim, Cheol-Hee

AU - Ropers, Hans-Hilger

AU - Gusella, James F

AU - Kalscheuer, Vera

AU - Choi, Cheol Yong

AU - Layman, Lawrence C

PY - 2010

Y1 - 2010

N2 - By defining the chromosomal breakpoint of a balanced t(10;12) translocation from a subject with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal subjects, we have identified WDR11 as a gene involved in human puberty. We found six patients with a total of five different heterozygous WDR11 missense mutations, including three alterations (A435T, R448Q, and H690Q) in WD domains important for propeller formation and protein-protein interaction. In addition, we discovered that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfactory neurons, and that missense alterations reduce or abolish this interaction. Our findings suggest that impaired pubertal development in these patients results from a deficiency of productive WDR11 protein interaction.

AB - By defining the chromosomal breakpoint of a balanced t(10;12) translocation from a subject with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal subjects, we have identified WDR11 as a gene involved in human puberty. We found six patients with a total of five different heterozygous WDR11 missense mutations, including three alterations (A435T, R448Q, and H690Q) in WD domains important for propeller formation and protein-protein interaction. In addition, we discovered that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfactory neurons, and that missense alterations reduce or abolish this interaction. Our findings suggest that impaired pubertal development in these patients results from a deficiency of productive WDR11 protein interaction.

M3 - SCORING: Zeitschriftenaufsatz

VL - 87

SP - 465

EP - 479

JO - AM J HUM GENET

JF - AM J HUM GENET

SN - 0002-9297

IS - 4

M1 - 4

ER -