Combined HS6ST1 and HS6ST2 loss disrupts the formation and migration of gonadotropin-releasing hormone neurons

6-O sulfotransferase (HS6ST) enzymes modify heparan sulfate proteoglycans (HSPGs) to promote growth factor binding to extracellular matrix or receptors. HS6ST1 variants are reported in patients with GnRH deficiency (GD), which is caused by the defective development of gonadotropin releasing hormone (GnRH) neurons. However, it is unknown whether and how HS6ST family members cooperate in GnRH neuron development. Here, we show that Hs6st1 and Hs6st2 are co-expressed in the nasal neurogenic epithelia, where GnRH neurons and their migratory substrate, the terminal nerve, originate. The combined but not individual disruption of Hs6st1 and Hs6st2 disrupted vomeronasal organ formation with incomplete penetrance and impaired brain entry of GnRH neurons, similar to mice with loss of the morphogen FGF8 or the axon guidance cue SEMA3A, respectively. In agreement with a role for HS6ST-modified HSPG in regulating SEMA3A signalling, SEMA3A binding to nasal tissues was impaired in the absence of HS6ST1 and HS6ST2. Our results establish a mechanistic role for HS6ST1 in GD and suggest HS6ST2 as an additional susceptibility locus for GD.

Authors

Institutions

Publication Details

Journal
Development
Published
2026-06-26
DOI
https://doi.org/10.1242/dev.204788
Primary Topic
Hypothalamic control of reproductive hormones
Type
article
Field-Weighted Citation Impact
0.00

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Combined HS6ST1 and HS6ST2 loss disrupts the formation and migration of gonadotropin-releasing hormone neurons

Roberto Oleari, Anna Cariboni, A Paganoni, Elena Ioannou et al.
Development
Hypothalamic control of reproductive hormones
article

Combined HS6ST1 and HS6ST2 loss disrupts the formation and migration of gonadotropin-releasing hormone neurons

Roberto Oleari, Anna Cariboni, A Paganoni, Elena Ioannou, Christiana Ruhrberg, Antonella Lettieri, S. Campinoti, S. Manzini, F. Amoruso, J. Gimmelli
article en

Abstract

6-O sulfotransferase (HS6ST) enzymes modify heparan sulfate proteoglycans (HSPGs) to promote growth factor binding to extracellular matrix or receptors. HS6ST1 variants are reported in patients with GnRH deficiency (GD), which is caused by the defective development of gonadotropin releasing hormone (GnRH) neurons. However, it is unknown whether and how HS6ST family members cooperate in GnRH neuron development. Here, we show that Hs6st1 and Hs6st2 are co-expressed in the nasal neurogenic epithelia, where GnRH neurons and their migratory substrate, the terminal nerve, originate. The combined but not individual disruption of Hs6st1 and Hs6st2 disrupted vomeronasal organ formation with incomplete penetrance and impaired brain entry of GnRH neurons, similar to mice with loss of the morphogen FGF8 or the axon guidance cue SEMA3A, respectively. In agreement with a role for HS6ST-modified HSPG in regulating SEMA3A signalling, SEMA3A binding to nasal tissues was impaired in the absence of HS6ST1 and HS6ST2. Our results establish a mechanistic role for HS6ST1 in GD and suggest HS6ST2 as an additional susceptibility locus for GD.

Development
Institute of Ophthalmology (MX), University College London (GB), University of Milano-Bicocca (IT)
British Heart Foundation, Ministero della Salute, Biotechnology and Biological Sciences Research Council
Openalex Percentile: Top 6%
Hypothalamic control of reproductive hormones
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.