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Lawrence C. Layman, M.D.
E-mail:
Research
Emphasis:
Our laboratory is interested in genes involved in human puberty and
reproduction. Humans with delayed puberty due to idiopathic hypogonadotropic
hypogonadism (IHH) and patients experiencing infertility are being charaterized
clinically and studied for mutations in reproductive genes. Identified mutations
are then studied in vitro to determine their functional effects and further
genotype/phenotype correlations are made. Mutations have been identified and
characterized in genes including GNRHR, FSHB, and KAL1, among others. Human,
mouse, and zebrafish models are being exploited to further understand normal
hypothalamic-pituitary gonadal axis development and function with regard to
normal puberty and fertility.
Selected Publications:
Layman, L.C., Lee, E.J., Peak, D.B., Namnoum, A.B., Vu, K.K., van Lingen, B.L., Gray, M.R., McDonough,
P.G., Reindollar, R.H., and Jameson, J.L. (1997) Delayed
puberty and hypogonadism caused by a mutation in the follicle stimulating hormone
beta-subunit gene. N. Engl. J. Med. 337:607-611.
Layman, L.C., Cohen,.D.P., Jin, M., Xie, J., Li, Z., Reindollar, R.H., Bolbolan, S., Bick, D.P., Sherins, R.J., Duck, L.W., Musgrove, L.C., Sellers, J.C., and Neill, J.D. (1998) Mutations in gonadotropin-releasing hormone receptor cause hypogonadotropic hypogonadism. Nat. Genet. 18:14-15.
Layman, L.C. (1999) Mutations in human gonadotropin genes and their physiologic significance in puberty and reproduction. Fertil. Steril. 71:201-218.