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TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction
Open accessAbstract
The timely secretion of gonadal sex steroids is essential for the initiation of puberty, the postpubertal maintenance of secondary sexual characteristics and the normal perinatal development of male external genitalia. Normal gonadal steroid production requires the actions of the pituitary-derived gonadotropins, luteinizing hormone and follicle-stimulating hormone. We report four human pedigrees with severe congenital gonadotropin deficiency and pubertal failure in which all affected individuals are homozygous for loss-of-function mutations in TAC3 (encoding Neurokinin B) or its receptor TACR3 (encoding NK3R). Neurokinin B, a member of the substance P-related tachykinin family, is known to be highly expressed in hypothalamic neurons that also express kisspeptin, a recently identified regulator of gonadotropin-releasing hormone secretion. These findings implicate Neurokinin B as a critical central regulator of human gonadal function and suggest new approaches to the pharmacological control of human reproduction and sex hormone-related diseases.
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In the citing paper
“Two of the most important excitatory components of the GnRH network were identified with the demonstration that the genetic loss of such inputs results in failure to initiate the GnRH pulse generator at the expected time of puberty, resulting in isolated hypogonadotropic hypogonadism.42–45”
From Pubertal development and regulation (2016) · cites this paper as [44]
In the citing paper
“It was not until 2009 that Topaloglu and colleagues44 identified NKB as an important factor for human puberty initiation, studying ten consanguineous families with multiple affected members who had isolated hypogonadotropic hypogonadism.”
From Pubertal development and regulation (2016) · cites this paper as [44]
In the citing paper
“Homozygous loss-of-function mutations in the genes encoding the NKB receptor (TACR3) and neurokinin B (TAC3) were identified, providing compelling evidence that the NKB system is necessary for the activation of the hypothalamic-pituitary-gonadal axis in puberty (table, figure 2).”
From Pubertal development and regulation (2016) · cites this paper as [44]
In the citing paper
“Although studies in animals have led to identification of regulators of GnRH such as catecholamines, GABA, and glutamate, genetic studies of patients with pubertal disorders have resulted in the identification of a major regulatory hub for the GnRH neurons—ie, the hypothalamic neurons expressing kisspeptin and neurokinin B.42–44”
From Pubertal development and regulation (2016) · cites this paper as [44]
In the citing paper
“In vitro studies showed that these two mutations impair the ability of NKR to activate signal transduction.63”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [63]
In the citing paper
“Two mutations found in TACR3 replace highly conserved amino acids located in the first (Gly93Asn) or sixth (Pro353Ser) transmembrane domain of NKR.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [63]
In the citing paper
“This mutation is located within the canonical tachykinin motif in the carboxyl terminus of the mature ligand.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [63]
In the citing paper
“NKB is expressed in the arcuate nucleus and its receptor is expressed in GnRH neurons of rodents, which suggests it has a possible role in the regulation of GnRH secretion.63”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [63]
In the citing paper
“In one family, a Met90Thr amino acid substitution of NKB affected individuals homozygous for the mutation but not those who were heterozygous.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [63]
In the citing paper
“NKB is expressed in the arcuate nucleus and its receptor is expressed in GnRH neurons of rodents, which suggests it has a possible role in the regulation of GnRH secretion.63”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [63]
In the citing paper
“The Gly93Asn mutation was found in all affected members of one family, whereas the Pro353Ser mutation was found in all affected members of two other families.63”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [63]
In the citing paper
“In vitro studies showed that the stimulation of NKR by NKB is markedly impaired by the Met90Thr substitution.63”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [63]
In the citing paper
“The tachykinin motif is predicted to undergo post-translational amidation for full activation of NKB.63”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [63]
In the citing paper
“A recent genome-wide single nucleotide polymorphism analysis identified homozygous mutations in TAC3 or TACR3 that segregated with the IHH phenotype in four (of nine) unrelated consanguineous families.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [63]
In the citing paper
“Moreover, two of the peptides in the hypertrophied neurons, kisspeptin and neurokinin B, are essential for pubertal development and fertility in the human (Chan et al., 2011; Topaloglu et al., 2009, 2012).”
From Modulation of body temperature and LH secretion by hypothalamic KNDy (kisspeptin, neurokinin B and dynorphin) neurons: A novel hypothesis on the mechanism of hot flushes (2013) · cites this paper as Topaloglu et al., 2009
In the citing paper
“The significance of this line of inquiry became apparent with the discovery that individuals with mutations in the genes encoding NKB or its receptor (NK3R) are infertile and do not transition through puberty (Gianetti et al., 2010; Topaloglu et al., 2009; Young et al., 2010).”
From Modulation of body temperature and LH secretion by hypothalamic KNDy (kisspeptin, neurokinin B and dynorphin) neurons: A novel hypothesis on the mechanism of hot flushes (2013) · cites this paper as Topaloglu et al., 2009
In the citing paper
“Rare deleterious mutations in TAC3R, encoding a receptor for Neurokinin B, and in its ligand TAC3 have been found in families affected by hypogonadotropic hypogonadism and pubertal failure31.”
From Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies (2010) · cites this paper as [31]
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Metadata
- Authors
- Topaloglu, A. K., Reimann, F., Guclu, M., Yalin, A. S., Kotan, L. D., Porter, K. M., Serin, A., Mungan, N. O., Cook, J. R., Ozbek, M. N., Imamoglu, S., Akalin, N. S., Yuksel, B., O'Rahilly, S., & Semple, R. K.
- Affiliations
- Cukurova University (TR)
- University of Cambridge (GB)
- Marmara University (TR)
- Corresponding author
- Topaloglu, A Kemal
- Venue
- Nature Genetics
- Published
- 2008-12-11
- Volume
- 41
- Issue
- 3
- Pages
- 354-358
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC4312696
- OpenAlex
- W2010920434
- Cited by
- 961
- References
- 33
- Citations by year
- 2026: 19 · 2025: 31 · 2024: 43 · 2023: 45 · 2022: 47 · 2021: 57 · 2020: 49 · 2019: 63 · 2018: 55 · 2017: 54 · 2016: 63 · 2015: 69 · 2014: 74 · 2013: 63 · 2012: 63
- FWCI
- 63.33
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Bursa Uludag University - AVESIS (submittedVersion)
- Dspace Repository (Marmara Üniversitesi) (submittedVersion, other-oa)
- Dspace Repository (Marmara Üniversitesi) (submittedVersion)
- Funders
- Wellcome Trust (078986/Z/06/Z, 078986, 080952/Z/06/Z, 080952, 084210)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuropeptides and Animal Physiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- TAC3, TACR3, neurokinin B, NK3 receptor, pubertal failure, loss-of-function mutations, tachykinins, kisspeptin, hypothalamus, gonadotropin-releasing hormone
- MeSH terms
- Amino Acid Sequence, Chromosomes, Human, Pair 4, DNA Mutational Analysis, Family, Gonads, Humans, Hypogonadism, Models, Biological, Mutation, Neurons, Pedigree, Reproduction, Neurokinin B, Sequence Homology, Amino Acid, Receptors, Neurokinin-3, Tumor Suppressor Proteins, Kisspeptins
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