TABLE 1.
Principal features of SLC26 family members.
| Protein | Major tissue distribution (mouse, human) | Anion transport features | Associated Human Diseases | Phenotype of the mouse models | References |
| SLC26A1 (SAT1) | Kidney - Liver - Pancreas -Small intestine-Colon - Lung -Brain - Heart - Skeletal muscle - Male reproductive organs: mouse testis | SO42–, Cl- and oxalate transporter | Nephrolithiasis | Deregulation of sulfate and oxalate homeostasis, nephrolithiasis. Defects of enamel maturation in mandibular incisors. | Lee et al., 2003; Regeer et al., 2003; Dawson et al., 2010, 2013; Gee et al., 2016; Yin et al., 2017 |
| SLC26A2 (DTDST) | Ubiquitous with higher expression in the cartilage (chondrocytes) - Male Reproductive organs : human efferent ducts (ciliated cells) | SO42–/2Cl–, SO42–/2OH–, SO42–/OH–/Cl– exchanger | Growth retardation and Osteochondrodysplasia | Non-lethal chondrodysplasia | Hästbacka et al., 1994; Rossi et al., 1996; Haila et al., 2001; Forlino et al., 2005; Kujala et al., 2007; Ohana et al., 2012 |
| SLC26A3 (DRA/CLD) | Gastrointestinal tract - Sweat Gland - Male reproductive organs: human testis (male germ cells), human efferent ducts (non ciliated cells), human epididymis ducts (apical mitochondrial rich cells), mouse spermatozoa | 2Cl–/HCO3–, Cl–/OH– exchanger NO3– and SCN– channel | Congenital Chloride Diarrhea. Human male subfertility | Chloride - losing diarrhea, Enhanced colonic proliferation. Loss of colonic fluid absorption and susceptibility to intestinal inflammation. Male infertility : epididymal defects, oligo-astheno-teratozoospermia, sperm capacitation defects | Silberg et al., 1995; Byeon et al., 1996; Hoglund et al., 1996; Melvin et al., 1999; Hihnala et al., 2006; Hoglund et al., 2006; Schweinfest et al., 2006; Shcheynikov et al., 2006; Dorwart et al., 2008; Chavez et al., 2012; Xiao et al., 2014; Wedenoja et al., 2017; El Khouri et al., 2018 |
| SLC26A4 (PDS/Pendrin) | Thyroid - Inner ear - Kidney - Salivary gland duct | Cl–/HCO3–, Cl–/I–, I–/HCO3– and formate exchanger | Pendred syndrome : deafness and goiter. Hypothyroidism | Deafness: enlargement of the membranous labyrinth and vestibular aqueduct, stria vascularis dysfunction. Impaired bicarbonate secretion in kidney. Acidic urine and hypercalciuria. Increased contractile force of aorta. | Li et al., 1998; Everett et al., 1999, 2001; Scott et al., 1999; Royaux et al., 2001, 2003; Amlal et al., 2010; Kim and Wangemann, 2010; Lu et al., 2011; Barone et al., 2012; Ito et al., 2014, 2015; Kopp, 2014; Sutliff et al., 2014; Mukherjee et al., 2017; Wen et al., 2019 |
| SLC25A5 (Prestin) | Cochlea : outer hair cells | Antiporter: SO42–/Cl– and Cl–/HCO3–Motor protein: electromotility | Non syndromic deafness | Loss of outer hair cell electromotility, Loss of cochlear sensitivity | Zheng et al., 2000, 2003; Liberman et al., 2002; Liu et al., 2003; Cheatham et al., 2004; Muallem and Ashmore, 2006; Dallos et al., 2008; Mistrík et al., 2012 |
| SLC26A6 (CFEX/PAT1) | Intestine - Stomach - Skeletal muscle - Heart - Kidney -Pancreas - Enamel - Male Reproductive organs : human efferent ducts (non ciliated cells), human ductus epididymis (apical mitochondria rich cells), mouse spermatozoa | Cl–/2HCO3–, Cl–/oxalate, Cl–/formate exchanger, NO3– and SCN– channel | Oxalate kidney stones; hyperoxaluria | Alteration of Cl-/HCO3- exchange in native pancreatic duct Calcium oxalate urolithiasis, Impairment of cardiac function, Oxalate secretion defects in saliva, Normal epididymal and sperm functions | Knauf et al., 2001; Jiang et al., 2002; Wang et al., 2002, 2005; Xie et al., 2002; Alvarez et al., 2004; Kujala et al., 2005; Freel et al., 2006; Jiang et al., 2006; Tuo et al., 2006; Ishiguro et al., 2007; Kujala et al., 2007; Monico et al., 2008; Seidler et al., 2008; Singh et al., 2010; Chavez et al., 2012; Song et al., 2012; Jalali et al., 2015; Sirish et al., 2017; Yin et al., 2017; El Khouri et al., 2018; Mukaibo et al., 2018 |
| SLC26A7 (SUT2) | Kidney - Stomach - Inner ear cells - Male Reproductive organs : human testis and ductus epididymis (basal cells) | Cl–/HCO3– exchanger Cl– channel | Gastrointestinal dysfunction, Goitrous congenital hypothyroidism | Distal renal tubular acidosis, Impaired gastric acidification, Defects of enamel maturation in mandibular incisors, Normal hearing | Lohi et al., 2002; Petrovic et al., 2003; Petrovic et al., 2004; Kujala et al., 2005; Dudas et al., 2006; Kujala et al., 2007; Xu et al., 2009; Kim et al., 2014; Yin et al., 2017; Cangul et al., 2018; Ishii et al., 2019 |
| SLC26A8 (TAT1) | Male Reproductive organs : human and mouse testis (male germ cells), spermatozoa | Cl–, SO42–, oxalate transporter | Human male infertility (asthenozoospermia) | Male infertility, reduced sperm motility (asthenozoospermia), Normal epididymal function | Toure et al., 2001; Lohi et al., 2002; Kujala et al., 2007; Rode et al., 2012; Dirami et al., 2013; Touré, 2017 |
| SLC26A9 | Lung - Human bronchial epithelial cells - Stomach - Innear ear cells | Cl–/ HCO3–, Na+/anion exchanger Cl– channel | Diffuse idiopathic bronchiectasis; Impaired exocrine pancreatic and lung functions in Cystic fibrosis patients | Impaired gastric secretion (gastric hypochlorhydria), Airway mucus obstruction in inflammatory condition, Reduction of renal chloride excretion, Elevated systemic arterial pressure, Impairment of intestinal electrolyte transport | Lohi et al., 2002; Xu et al., 2005;, Arcelay et al., 2008; Xu et al., 2008; Bertrand et al., 2009; Kim and Wangemann, 2010; Anagnostopoulou et al., 2012; Bakouh et al., 2013; Liu et al., 2015; Miller et al., 2015; Strug et al., 2016; Bertrand et al., 2017; Corvol et al., 2018 |
| SLC26A10 (Pseudogene) | N/A | N/A | N/A | N/A | N/A |
| SLC26A11 (SUT1/KBAT) | Kidney, Intestine, Brain | SO42− transporter Cl– channel | Renal tubular dysfunction, Impairment of locomotor coordination | Dysfunction of chloride homeostasis and neuronal activity in the cerebellum | Vincourt et al., 2003; Xu et al., 2011; Rahmati et al., 2013, 2016 |
The table displays the tissues were SLC26 genes and proteins are mainly detected in humans and mice, together with their anion specificity and their mode of transport, when defined. The clinical signs of the human genetic diseases associated with SLC26 mutations and the phenotype of the corresponding mutant mouse models are also described. References for information summarized in the table are indicated. In blue are highlighted all the features in regard with male reproductive organs and this review.