Lesch--Nyhan syndrome is an X-linked disease caused by the deficiency of
hypoxanthine phosphoribosyltransferase, an enzyme involved in the purine salvage
pathways. It is characterized by severe gout, choreoathetosis, self-mutilatory
behaviour and mental retardation.
NCBI Summary:
The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009]
General function
Cell death/survival, DNA Replication, Enzyme, Transferase
Comment
Cellular localization
Cytoplasmic
Comment
Ovarian function
Oogenesis, Oocyte maturation
Comment
Identification of reference genes for qRT-PCR in granulosa cells of healthy women and polycystic ovarian syndrome patients. Lv Y et al. (2017) Comparative gene expression analysis by qRT-PCR is commonly used to detect differentially expressed genes in studies of PCOS pathology. Impaired GC function is strongly associated with PCOS pathogenesis, and a growing body of studies has been dedicated to identifying differentially expressed genes in GCs in PCOS patients and healthy women by qRT-PCR. It is necessary to validate the expression stability of the selected reference genes across the tested samples for target gene expression normalization. We examined the variability and stability of expression of the 15 commonly used reference genes in GCs from 44 PCOS patients and 45 healthy women using the GeNorm, BestKeeper, and NormFinder statistical algorithms. We combined the rankings of the three programs to produce a final ranking based on the geometric means of their stability scores. We found that HPRT1, RPLP0, and HMBS out of 15 examined commonly used reference genes are stably expressed in GCs in both controls and PCOS patients and can be used for normalization in gene expression profiling by qRT-PCR. Future gene-expression studies should consider using these reference genes in GCs in PCOS patients for more accurate quantitation of target gene expression and data interpretation.//////////////////
Identification of Stably Expressed Reference Genes for RT-qPCR Data Normalization in Defined Localizations of Cyclic Bovine Ovaries. Schoen K 2014 et al.
Ovaries are highly complex organs displaying morphological, molecular and functional differences between their cortical zona parenchymatosa and medullary zona vasculosa, and also between the different cyclic luteal stages. Objective of the present study was to validate expression stability of twelve putative reference genes (RGs) in bovine ovaries, considering the intrinsic heterogeneity of bovine ovarian tissue with regard to different luteal stages and intra-ovarian localizations. The focus was on identifying RGs, which are suitable to normalize RT-qPCR results of ovaries collected from clinical healthy cattle, irrespective of localization and the hormonal stage. Expression profiles of twelve potential reference genes (GAPDH, ACTB, YWHAZ, HPRT1, SDHA, UBA52, POLR2C, RPS9, ACTG2, H3F3B, RPS18 and RPL19) were analysed. Evaluation of gene expression differences was performed using genorm, normfinder, and bestkeeper software. The most stably expressed genes according to genorm, normfinder and bestkeeper approaches contained the candidates H3F3B, RPS9, YWHAZ, RPS18, POLR2C and UBA52. Of this group, the genes YWHAZ, H3F3B and RPS9 could be recommended as best-suited RGs for normalization purposes on healthy bovine ovaries irrespective of the luteal stage or intra-ovarian localization.
/////////////////////////
Taylor DM, et al 2001
developed a competitive reverse transcription-polymerase chain
reaction (RT-PCR) sensitive enough to detect and quantify as little as 2-fold
differences in gene expression in individual oocytes and embryos throughout
human preimplantation development. This technique was used to quantify the level of
hypoxanthine phosphoribosyl transferase (HPRT) expression during
preimplantation development and to correlate this with embryo sex. The amount
of HPRT transcripts present in the unfertilized oocyte was equivalent to 7.7
fg of competitor cDNA.
Follicle stages
Primordial, Primary, Secondary, Antral, Preovulatory, Corpus luteum
Comment
Phenotypes
Mutations
2 mutations
Species: human
Mutation name: None
type: naturally occurring fertility: fertile Comment: In man congential lack of enzyme of the purine salvage system,
hypoxanthineguanine phosphoribosyl transferase (HG-PRT E.C. 2.4.2.8), is
mostly accompanied by a picture known as the Lesch-Nyhan snydrome. The
degree of deficiency may vary from zero to a few percent of normal activity but a
correlation between the severity of HG-PRT deficiency and the clinical picture
has not been observed, no more than a correlation HG-PRT deficiency and
neurological dysfunction.
Species: rat
Mutation name: type: null mutation fertility: infertile - non-ovarian defect Comment: Hypoxanthine phosphoribosyltransferase (HPRT)-deficiency is associated with impaired fertility in the female rat. Meek S et al. (2020) The purine hypoxanthine plays important role in regulating oocyte maturation and early embryonic development. The enzyme hypoxanthine phosphoribosyltransferase (HPRT) recycles hypoxanthine to generate substrates for nucleotide synthesis and key metabolites, and here we show that HPRT deficiency in the rat disrupts early embryonic development and causes infertility in females.//////////////////