Table 1.
Pitx gene function in organogenesis
| Pitx1 | Pitx2 | Pitx3 | |
|---|---|---|---|
| Mouse | |||
| Mortality aging | Lethal at E14-E15 [55] | Lethal at E12-E14 [25, 26, 37, 41] | Viable and fertile |
| Craniofacial system | Mictognathia;mandibular tooth morphogenesis [40]; cleft palate; abnormal middle ear ossicle; abnormal Meckel’s cartilage [31] | Dental defects, no progression of odontogenesis; cleft palate; small tongue [41, 52] | |
| Nervous system | Induction of midbrain dopaminergic neurons [49] | ||
| Visual system | Ocular development [43]; loss of extraocular muscle [32]; defected lens (aniridia) | Defected lens [47], aphakia [45] | |
| Endocrine system | Diminished somatotropes, thyrotropes and gonadotropes cell lineages [55, 56] | Pituitary development; specification of somatotropes, thyrotropes and gonadotropes cell lineages [26] | |
| Hematopoietic system | Support liver stroma cells [129] | ||
| Cardiovascular system | Non-septated atria; dextrocardia; Truncus Arteriosus (TA); double outlet right ventricle (DORV); transposition of the great arteries (TGA); defected vasculogenesis, thin vascular walls [25, 26, 41, 73]; arrythmogenesis [81, 130] | ||
| Skeletal system | Hindlimb morphogenesis; tibia, fibula, patella, ischium, proximal tarsus [55, 59, 60] | Tendons and skeletal elements of the limbs | |
| Respiratory system | Right pulmonary isomerism [26, 41] | ||
| Alimentary system | Stomach and gut rotation; thin intestinal wall [25, 26, 41, 72, 131] | ||
| Muscular system | Small bifurcated tongue; muscle hypoplasia [87] | Absent jaw muscle [32]; deformed limb musculature; specification of abdominal musculature [63]; myogenesis [66]; maintenance of integrity and energy homeostasis of fetal myofibers [68]; promotion of satellite cells to myogenic state [122], fetal myogenesis [132] | Fetal myogenesis [132] |
| Human | |||
| Craniofacial system | Missing and misplaced teeth [90]; Esophageal Squamous Cell Carcinoma (ESCC) [115] | ||
| Visual system | Axenfeld Rieger Syndrome type 1 (ARS 180,400) [90]; anterior segment dysgenesis 4 (ASSGD4 137,600); ring dermoid of cornea (180,550) [93]; iridogoniodysgenesis syndrome (IGDS); Peters Anomaly [94] | Anterior segment dysgenesis (ASMD); congenital cataract [46] | |
| Endocrine system | Thyroid Cancer [117]; ovarian Cancer [114] | ||
| Cardiovascular system | Tetralogy of Fallot [103]; ventricular and atrial septal defects [102]; transposition of great arteries (TGA) [101]; endocardial cushions defects | ||
| Skeletal system | Club foot [86, 87], Liebenberg syndrome [89] | Short syndrome [97] | |
| Alimentary system | |||