Deletion of Vax1 from Gonadotropin-Releasing Hormone (GnRH) Neurons Abolishes GnRH Expression and Leads to Hypogonadism and Infertility.
Hanne M HoffmannCrystal TrangPing GongIkuo KimuraErica C PandolfiPamela L MellonPublished in: The Journal of neuroscience : the official journal of the Society for Neuroscience (2016)
Infertility classified as idiopathic hypogonadotropic hypogonadism (IHH) is characterized by delayed or absent sexual maturation and low sex steroid levels due to alterations in neuroendocrine control of the hypothalamic-pituitary-gonadal axis. The incidence of IHH is 1-10 cases per 100,000 births. Although extensive efforts have been invested in identifying genes giving rise to IHH, >50% of cases have unknown genetic origins. We recently showed that haploinsufficiency of ventral anterior homeobox 1 (Vax1) leads to subfertility, making it a candidate in polygenic IHH. In this study, we investigate the mechanism by which VAX1 controls fertility finding that VAX1 is required for maintenance of Gnrh1 gene expression and deletion of Vax1 from GnRH neurons leads to complete infertility.
Keyphrases
- gene expression
- spinal cord
- genome wide
- polycystic ovary syndrome
- poor prognosis
- dna methylation
- replacement therapy
- risk factors
- mental health
- type diabetes
- quality improvement
- gestational age
- transcription factor
- binding protein
- spinal cord injury
- deep brain stimulation
- long non coding rna
- skeletal muscle
- genome wide identification
- smoking cessation