Normal Reproductive Function in InhBP/p120-Deficient Mice

Bernard, Daniel J.; Burns, Kathleen H.; Haupt, Bisong; Matzuk, Martin M.; Woodruff, Teresa K.

doi:10.1128/mcb.23.14.4882-4891.2003

Cited by 38 publications

(54 citation statements)

References 53 publications

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“…Our results corroborate those of an early study showing Igsf1 mRNA expression in adult rat adrenal gland (Bernard & Woodruff 2001). Moreover, both reports suggest that the transcript is derived from an intronic promoter and corresponds to mRNA isoform 4 described in mouse pituitary (Bernard et al 2003). The rat pancreas has not been investigated previously, but IGSF1 mRNA expression has been observed in northern blots of the adult human pancreas (Frattini et al 1998, Mazzarella et al 1998.…”

Section: Figuresupporting

confidence: 81%

Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat

Joustra¹,

Meijer²,

Heinen³

et al. 2015

Journal of Endocrinology

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Loss-of-function mutations in the immunoglobulin superfamily member 1 (IGSF1) gene cause an X-linked syndrome of central hypothyroidism, macroorchidism, variable prolactin and GH deficiency, delayed pubertal testosterone rise, and obesity. To understand the pathophysiology of this syndrome, knowledge on IGSF1's place in normal development is imperative. Therefore, we investigated spatial and temporal protein and mRNA expression of IGSF1 in rats using immunohistochemistry, real-time quantitative PCR (qPCR), and in situ hybridization. We observed high levels of IGSF1 expression in the brain, specifically the embryonic and adult choroid plexus and hypothalamus (principally in glial cells), and in the pituitary gland (PIT1-lineage of GH, TSH, and PRL-producing cells). IGSF1 is also expressed in the embryonic and adult zona glomerulosa of the adrenal gland, islets of Langerhans of the pancreas, and costameres of the heart and skeletal muscle. IGSF1 is highly expressed in fetal liver, but is absent shortly after birth. In the adult testis, IGSF1 is present in Sertoli cells (epithelial stages XIII-VI), and elongating spermatids (stages X-XII). Specificity of protein expression was corroborated with Igsf1 mRNA expression in all tissues. The expression patterns of IGSF1 in the pituitary gland and testis are consistent with the pituitary hormone deficiencies and macroorchidism observed in patients with IGSF1 deficiency. The expression in the brain, adrenal gland, pancreas, liver, and muscle suggest IGSF1's function in endocrine physiology might be more extensive than previously considered.

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Section: Figuresupporting

confidence: 81%

Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat

Joustra¹,

Meijer²,

Heinen³

et al. 2015

Journal of Endocrinology

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“…Using the ovine InhBP/p120 probe we confirmed the results obtained by Bernard & Woodruff (2001) since rat InhBP mRNA levels were at least three times higher in metoestrus than pro-oestrus (data not shown, Bernard & Woodruff 2001). However, the same authors have recently shown that mice deficient for both isoforms of InhBP/p120 are fertile and exhibit no obvious alterations in pituitary FSH synthesis or release and normal gonadal physiology and histology (Bernard et al 2003). Thus, these results support our data obtained in the ewe indicating no change in the expression of InhBP/p120 in the pituitary throughout the oestrous cycle, suggesting that InhBP/p120 may not be important for the synthesis and release of FSH.…”

Section: Figuresupporting

confidence: 75%

Activin and inhibin receptor gene expression in the ewe pituitary throughout the oestrous cycle

Fafioffe

Jf²,

Fontaine³

et al. 2004

Journal of Endocrinology

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In mammals, activin and inhibin are important regulators of FSH secretion. Previous studies have demonstrated that primary ovine pituitary cells express different activin receptor subtypes: activin receptor-like (ALK)2, ALK4, activin type II receptor A (ActRIIA), ActRIIB and Smad proteins in vitro. Here, we have carried out physiological studies to investigate the pattern of mRNA expression of the activin receptor subunits in the ewe pituitary throughout the oestrous cycle. The oestrous cycles of ewes were synchronized with progestagen sponges. The animals were killed 36 h (before the preovulatory surge, n=4), 48 h (during the preovulatory surge, n=4), 72 h (during the second surge of FSH, n=6) and 192 h (during the luteal phase, n=4) after sponge removal. Using Northern blots, we have shown that the levels of ALK2, ALK4 and ActRIIB mRNA were significantly higher before the preovulatory surge and during the secondary surge of FSH as compared with both during the preovulatory surge and the luteal phase, whereas the level of the ActRIIA mRNA was similar throughout the oestrous cycle. Using Western blots we have also demonstrated that the level of phosphoSmad2 did not vary during the reproductive cycle. Inhibin binding protein (InhBP/p120) and the transforming growth factor-type III receptor, betaglycan, have been identified as putative inhibin co-receptors. In this study, we cloned a fragment of both InhBP/p120 and betaglycan cDNAs in the ewe and showed by Northern blot that pituitary betaglycan and InhBP/p120 mRNA levels did not fluctuate across the oestrous cycle nor did they correlate with serum FSH levels.

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“…However, 6 patients with macroorchidism had fertility. Whereas the exact mechanism of delayed puberty and macroorchidism is unknown, IGSF1 is expressed in testis [10,12]. Therefore, it is speculated that IGSF1 may play some role in human references…”

Section: Resultsmentioning

confidence: 99%

“…IGSF1 encodes a plasma membrane immunoglobulin super family glycoprotein , containing twelve C2 type immunoglobulin loops, a transmembrane domain, and a short intracellular C terminal domain [11][12][13]. It has been shown that human IGSF1 and mouse Igsf1 are highly expressed in Rathke's pouch and adult pituitary gland and testis [10,12]. In addition, Igsf1 protein is expressed in mouse thyrotropes, somatotropes and lactotropes, but not in gonadotropes [10].…”

mentioning

confidence: 99%

“…Most recently, mutations and deletions of human immunoglobulin superfamily gene 1 (IGSF1) have been reported in X-linked C-CH [10]. IGSF1 encodes a plasma membrane immunoglobulin super family glycoprotein , containing twelve C2 type immunoglobulin loops, a transmembrane domain, and a short intracellular C terminal domain [11][12][13]. It has been shown that human IGSF1 and mouse Igsf1 are highly expressed in Rathke's pouch and adult pituitary gland and testis [10,12].…”

mentioning

confidence: 99%

See 1 more Smart Citation

A novel mutation of <i>IGSF1</i> in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication]

2013

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Abstract. Congenital central hypothyroidism (C-CH) is a rare disease known to be caused by mutations of the genes encoding TSH β or the TRH receptor gene, although the cause of the disease in a number of patients has not yet been clarified. Recently, mutations and deletions of the immunoglobulin superfamily member 1 (IGSF1) gene have been reported to be the cause of C-CH. Here we report a Japanese male patient with C-CH due to a novel IGSF1 mutation. He was detected by neonatal mass screening of simultaneous TSH and free T4 measurements and levothyroxine was initiated. At 6 years of age he underwent 123 I scintigraphy after levothyroxine treatment had been discontinued for one month and his thyroid and pituitary function were evaluated. Since TSH and PRL responses after TRH stimulation were low, his diagnosis of C-CH was confirmed. During follow up, whereas onset of his puberty was delayed, his secondary sex characterization completed at 17 years old. In this patient we analyzed IGSF1 and TRHR. As results, we identified a novel insertion mutation in IGSF1 (c.3528-3529insC), resulting in a premature stop codon (p.Pro1082Trpfs39X). In conclusion, we identified a novel mutation of IGSF1 in a Japanese male patient with C-CH.

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Normal Reproductive Function in InhBP/p120-Deficient Mice

Cited by 38 publications

References 53 publications

Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat

Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat

Activin and inhibin receptor gene expression in the ewe pituitary throughout the oestrous cycle

A novel mutation of <i>IGSF1</i> in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication]

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