Table 2 Top genes with converging evidence for involvement in puberty.
From: Salivary DNA methylation and pubertal development in adolescents
Gene Name | Identified in previous research? | Differentially methylated with puberty in current EWASs? | Description | ||||
|---|---|---|---|---|---|---|---|
Variants associated with younger menarche / voice break | Expression changes longitudinally with puberty | Methylation associated with age across mammalian species | Pubertal age: boys | Pubertal age: girls | Pubertal pace: boys | ||
DCAKD | X | X | X | Involved in biosynthesis of coenzyme A; associated with schizophrenia and Parkinson’s | |||
ZIC4 | X | X | X | X | Transcription factor necessary for embryogenesis and cerebellar development; differentially methylated in neural tube defects | ||
OSTM1 | X | X | X | Bone remodeling and bone mass maintenance; mutations affect skeletal development | |||
CSMD2 | X | X | X | Involved in synaptic function; associated with schizophrenia | |||
GATA4 | X | X | X | X | Transcription factor involved in heart and testis development; epigenetically silenced in cancer | ||
LMO3 | X | X | X | Transcription co-factor that regulates adipogenesis | |||
SMG6 | X | X | X | Involved in telomere maintenance; necessary for spermatogenesis | |||
RANBP17 | X | X | X | X | Involved in spermatogenesis | ||
BDNF | X | X | X | X | Critical for neuronal development and survival; involved in neurodegenerative disease and obesity | ||
LIN28B | X | X | X | X | RNA-binding protein; maintains stem cell pluripotency; controls the timing of larval development in C. elegans; overexpressed in aggressive cancers | ||
HMGA2 | X | X | X | X | Chromatin modifier found in high levels in developing tissues; promotes adipogenesis | ||
FEZF1-AS1 | X | X | X | X | Long noncoding RNA possibly regulating FEZF1, which is critical for hypothalamus development; monogenic mutations in FEZF1 cause absent puberty | ||
SDK1 | X | X | Cell adhesion molecule in neurons; differentially methylated by childhood abuse | ||||
PKNOX2 | X | X | Transcription factor; expressed in embryonic pituitary; candidate gene for congenital hypogonadotropic hypogonadism | ||||
FOXG1 | X | X | X | Transcription factor critical for brain development; rare mutations cause microcephaly and developmental disability | |||
NMT1 | X | X | Enzyme catalyzing N-myristoylation to modify proteins; NMT inhibitors selectively kill senescent cells | ||||
ZIC1 | X | X | X | Transcription factor important for neural crest development and cerebellar patterning | |||
PRKCB | X | X | X | Kinase involved in cell survival; associated with Alzheimer’s | |||
GRID1 | X | X | X | Glutamate receptor subunit involved in synaptic plasticity; expression in hypothalamus changes at puberty in female rats | |||
PRRT1 | X | X | X | Transmembrane protein involved in synapse development; methylation previously associated with air pollution | |||
OBI1-AS1 | X | X | X | Long noncoding RNA possibly regulating OBI1, encoding a ligase essential for DNA replication; OBI1 identified as gene regulating muscle development in cattle | |||
SIL1 | X | X | X | X | Chaperone in protein folding; mutations affect muscle development | ||
PPM1F | X | X | X | Phosphatase; expression regulated by stress and trauma; involved in apoptosis regulation | |||
EIF4G3 | X | X | X | Component of translation initiation complex; in model organisms, inhibiting expression arrests early development but extends lifespan in adulthood | |||
LHFPL4 | X | X | X | Involved in regulating formation of inhibitory synapses; methylation robustly associated with age across mammals | |||
FOXO3 | X | X | X | Transcription factor promoting longevity; variants linked to increased lifespan | |||
