Abstract:
:The first mutation in a gene associated with a neuronal migration disorder was identified in patients with Kallmann Syndrome, characterized by hypogonadotropic hypogonadism and anosmia. This pathophysiological association results from a defect in the development of the GnRH and the olfactory system. A recent genetic screening of Kallmann Syndrome patients revealed a novel mutation in CCDC141. Little is known about CCDC141, which encodes a coiled-coil domain containing protein. Here, we show that Ccdc141 is expressed in GnRH neurons and olfactory fibers and that knockdown of Ccdc141 reduces GnRH neuronal migration. Our findings in human patients and mouse models predict that CCDC141 takes part in embryonic migration of GnRH neurons enabling them to form a hypothalamic neuronal network to initiate pulsatile GnRH secretion and reproductive function.
journal_name
Endocrinologyjournal_title
Endocrinologyauthors
Hutchins BI,Kotan LD,Taylor-Burds C,Ozkan Y,Cheng PJ,Gurbuz F,Tiong JD,Mengen E,Yuksel B,Topaloglu AK,Wray Sdoi
10.1210/en.2015-1846subject
Has Abstractpub_date
2016-05-01 00:00:00pages
1956-66issue
5eissn
0013-7227issn
1945-7170journal_volume
157pub_type
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