@article{3c364e324baf44e3814699203f96025c,
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 β 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 = "Kim, {Hyung Goo} and Ahn, {Jang Won} and Ingo Kurth and Reinhard Ullmann and Kim, {Hyun Taek} and Anita Kulharya and Ha, {Kyung Soo} 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 Kim, {Soo Hyun} and Kim, {Cheol Hee} and Ropers, {Hans Hilger} and Gusella, {James F.} and Vera Kalscheuer and Choi, {Cheol Yong} and Layman, {Lawrence C.}",
note = "Funding Information: This paper is dedicated to the 80 th birthday of Paul G. McDonough. We thank all families for their kind participation in this study. We are indebted to the following colleagues for this study: Stefanie Meien, Milton David Stuart, Karen Norris, Ihn-Sik Seong, Jae Ho Lee, Gabriela Alexandru, Wei Chen, Ines M{\"u}ller, Fei Lan, Hans-J{\"u}rgen Kreienkamp, Enno G{\"o}{\ss}ling, Duygu Duman, Lynn Chorich, Sandra Tho, Jill Mokry, Lisa Halvorson, and Temple Smith. We acknowledge support by the Landesstiftung Baden-W{\"u}rtemberg, the Deutsche Akademische Austauschdienst (German Academic Exchange Service) and the volunteers of POEM@HOME . This study was supported in part by a Korea Science and Engineering Foundation (KOSEF) grant funded by the government of the Republic of Korea (The Ubiquitome Research Program, 2009-00983 to C.Y.C.) J.F.G. was supported by National Institutes of Health grant GM061354 for the Developmental Genome Anatomy Project. We also acknowledge support to L.C.L. from National Institutes of Health grants HD33004 and HD040287. ",
year = "2010",
month = oct,
day = "8",
doi = "10.1016/j.ajhg.2010.08.018",
language = "English (US)",
volume = "87",
pages = "465--479",
journal = "American journal of human genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",
}