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. 2023 Dec 20;10(1):dvad010. doi: 10.1093/eep/dvad010

Table 2:

Functions of genes escaping epigenetic reprogramming in growth, fertility, cardiac disorders, and neurodevelopment

Gene ID Function Reference
ADGRV1 Associated with several forms of epilepsy [100]
ASTN2 Codes for a membrane protein implicated in synaptic function; associated with intellectual disability, attention-defict hyperactivity disorder, Alzheimer’s disease, bipolar disorder, major depressive disorder, response to anti-psychotic treatment, anhedonia, neuroticism, and mood instability [52, 60, 101–103]
Associated with cardiometabolic traits such as blood pressure and obesity [104]
AUTS2 A crucial gene associated with a wide range of neuropsychological disorders, including autism spectrum disorder, intellectual disability, schizophrenia, and epilepsy [105]
AXDND1 Required for spermatid differentiation; associated with male sterility [83]
BRINP3 Involved in anxiety response and sociability in mice [106]
CAP2 Controls dendritic spine morphology and synaptic plasticity [107]
Associated with body height in sheep [108]
CATSPER3 Crucial for sperm motility, associated with male fertility [109]
CDH12 Affects axon extension; associated with Bipolar Disease, schizophrenia, and dependency from methamphetamine and alcohol [110]
Associated with bone growth in chickens [111]
CFAP299 Involved in spermatogenesis, a candidate cause of male infertility [112]
CNTN5 Involved in the development of the cerebral cortex; associated with attention-deficit hyperactivity disorder, anorexia nervosa, and substance abuse [47, 113–115]
CNTNAP2 Associated with autism spectrum disorders and epilepsy [50, 116, 117]
COL19A1 Involved in the formation of hippocampal synapses and perineuronal nets [58]
Encodes a type XIX collagen and regulates muscle development [38]
Regulates cardiac extracellular matrix structure and ventricular function in mice [40]
CSGALNACT1 Required for normal cartilage development; associated with mild skeletal dysplasia [118]
Involved in neuronal regeneration and plasticity; knockdown alters social behavior in mice [119, 120]
CTNNA3 Associated with late-onset Alzheimer’s disease, autism spectrum disorder susceptibility, and schizophrenia [48, 49, 121]
DMC within this gene found to be associated with male fertility [68]
Involved in dilated cardiomyopathy-associated phosphorylation [122]
Associated with weight, height, body length, and chest circumference in Hu sheep [108]
DIRAS3 Its DMR considered a marker of sperm DNA damage, thus associated with idiopathic male infertility [35]
Regulates growth, development, and adipogenesis. [41]
DLG2 Associated with intellectual disability, behavioral disorders, and Parkinson’s disease [57, 123]
Associated with testis development and male fertility in mice [124]
IL1RAP Involved in neuronal synapse and neuronal development; associated with Alzheimer’s disease and schizophrenia [53, 125, 126]
LOC105602588 Uncharacterized
LOC101123029 Uncharacterized
LOC105613000 Uncharacterized
LPAR1 Essential for maintaining the normal functions of the central nervous system; alterations in function or expression associated with neurodevelopmental and neuropsychiatric disorders and brain cancer [61]
Associated with semen quality in Holstein–Freisian bulls [63]
LRRIQ3 Associated with schizophrenia, migraine, and severe intellectual disability [54, 127, 128]
Associated with muscle development in swine [129]
NOD1 Plays a critical role in the control of host defense and inflammation in particular during intracerebral hemorrhage [130, 131]
SCLT1 Ciliary gene whose mutations are associated with ciliopathy phenotypes (as oro-facio-digital syndrome type IX, Senior–Loken syndrome, Bardet–Biedl syndrome); associated with alcohol use behavior in trauma-exposed human populations [132, 133]
SEC23IP Associated with intellectual disability, craniofacial and brain malformations, and attention-deficit/hyperactivity disorder [51, 128]
Required for spermiogenesis [45]
STAG1 Cohesin subunit participating in sister chromatid cohesion and 3D genome organization; associated with neurodevelopmental disorders and syndromic intellectual disability [55, 134, 135]
STK32B Associated with anxiety disorders in adolescents and with essential tremor [136, 137]
Associated with sperm concentration in bovine [138]
SVEP1 Associated with coronary artery disease [139, 140]
THOC1 Involved in presynaptic development and plays roles in dopamine neuron survival, associated with herding behavior (fear) in dogs [64, 65]
Required for testis and embryo development in mice [66, 141]
TLL1 Under stress conditions, indirectly affects neurogenesis; proposed as a susceptibility gene for post-traumatic stress disorder [142, 143]
TLN2 Associated with depression and Alzheimer’s disease [142, 143]
Associated with cardiomyopathy [144]
TMEM245 Associated with schizophrenia (often found as C9orf5) [48]
TNNI3K Implicated in several cardiac phenotypes and diseases, such as cardiomyopathy; deletion reduces infarct size and cardiomyocyte death [145]
ZBTB20 Involved in astrocytogenesis during mammalian neocortical development; hypermethylation associated with major depressive disorder [56, 146]
Associated with cryptorchidism [147]