Pit-1 Research Articles

Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene.

Because the causes of combined pituitary hormone deficiency (CPHD) are complex, the etiology of congenital CPHD remains unknown in most cases. The aim of the study was to identify the genetic etiology of CPHD in a well-defined single-center cohort. In total, 34 children (12 girls) with congenital CPHD (growth hormone (GH) deficiency and impaired secretion of at least one other pituitary hormone) treated with GH in our center were enrolled in the study. Their median age was 11.2 years, pre-treatment height was -3.2 s.d., and maximal stimulated GH was 1.4 ug/L. Of them, 30 had central adrenal insufficiency, 27 had central hypothyroidism, ten had hypogonadotropic hypogonadism, and three had central diabetes insipidus. Twenty-six children had a midline defect on MRI. Children with clinical suspicion of a specific genetic disorder underwent genetic examination of the gene(s) of interest via Sanger sequencing or array comparative genomic hybridization. Children without a detected causal variant after the first-tier testing or with no suspicion of a specific genetic disorder were subsequently examined using next-generation sequencing growth panel. Variants were evaluated by the American College of Medical Genetics standards. Genetic etiology was confirmed in 7/34 (21%) children. Chromosomal aberrations were found in one child (14q microdeletion involving the OTX2 gene). The remaining 6 children had causative genetic variants in the GLI2, PROP1, POU1F1, TBX3, PMM2, and GNAO1 genes, respectively. We elucidated the cause of CPHD in a fifth of the patients. Moreover, our study supports the PMM2 gene as a candidate gene for CPHD and suggests pathogenic variants in the GNAO1 gene as a potential novel genetic cause of CPHD.

The effect of miR-23b-3p on regulating GH by targeting POU1F1 in Yanbian yellow cattle

This study aimed to evaluate the effect of miR-23b-3p on growth hormone (GH) in pituitary cells of Yanbian yellow cattle. The mRNA and protein levels of GH and miR-23b-3p target genes were measured by real time fluorescence quantitative PCR (qPCR) and Western blot, respectively. The target relationship of miR-23b-3p was validated by double luciferase reporter gene system. The results showed that GH mRNA and protein levels in pituitary cells of Yanbian yellow cattle were significantly lower in the miR-23b-3p-mi group than in the NC group (P<0.01), while GH mRNA and protein levels were higher in the miR-23b-3p-in group than in the iNC group (P<0.05). The result of bioinformatics analysis and double luciferase reporter gene system validation proved that miR-23b-3p targeted 3′UTR of pituitary specific transcription factor 1 (POU1F1). POU1F1 mRNA and protein levels were lower miR-23b-3p-mi group than in the NC group (P<0.01), while POU1F1 mRNA and protein levels were higher in the miR-23b-3p-in group than in the iNC group (P<0.01). These results demonstrated that miR-23b-3p could regulate GH expression in pituitary cells by regulating POU1F1 gene.

FOXO1 regulates expression of Neurod4 in the pituitary gland

Pituitary gland function is regulated by the activity of various transcription factors that control cell fate decisions leading to cellular differentiation and hormone production. FOXO1 is necessary for normal somatotrope differentiation and function. Recent in vivo data implicate FOXO1 in the regulation of genes important for somatotrope differentiation including Gh1, Neurod4, and Pou1f1. In the current study, the somatotrope-like cell line GH3 was treated with a FOXO1 inhibitor, resulting in significant reduction in Neurod4 and Gh1 expression. Consistent with these findings, CRISPR/Cas9-mediated deletion of Foxo1 in GH3 cells significantly reduced expression of Gh1 and Neurod4. Chromatin immunoprecipitation sequencing identifies novel FOXO1 binding sites associated with the Neurod4, Gh1, and Pou1f1 genes. The FOXO1 binding site in the Neurod4 gene exhibits enhancer activity in somatotrope-like cells but not in gonadotrope-like cells. These data strongly suggest FOXO1 directly contributes to the transcriptional control of genes important for somatotrope differentiation.

Genetic Characterization of Myf5 and POU1F1 Genes in Different Egyptian Local Rabbit Breeds and Their Association with Growth Traits

Genetic characterization and its association with quantitative traits in local breeds are important tools for the genetic improvement and sustainable management of animal genetic resources. Myogenic regulatory factor 5 (MYf5) and POU class 1 homeobox 1 (POU1F1) are candidate genes which play important roles in growth and development of mammals. The present study aims to detect the genetic diversity of the MYf5 and POU1F1 genes in four local Egyptian rabbit breeds and their association with growth traits, using PCR-restriction enzyme (PCR–RFLP), PCR-single-strand conformational polymorphism (PCR–SSCP), and direct sequencing techniques. The results showed that MYF5 exon 1 was observed with two genotypes in Baladi Black (BB), Gabali (GB) and New Zealand White (NZW) breeds while APRI-line (APRI) presented one genotype. The genetic diversity of Myf5 exon 2 between breeds showed two genotypes in APRI compared to three in NZW and four genotypes in BB and GB breeds. The genetic diversity of the POU1F1 gene (intron 5 and partial cds) in different rabbit breeds was two genotypes in NZW and three genotypes in BB, GB, and APRI breeds with different frequencies for each genotype. Based on the statistically significant difference between genes genotypes and growth weight, the results suggested that the genotypes of Myf5 exon 2 (1 and 2) of the BB breed, Myf5 exon 2 genotype 2 of the APRI breed, and genotype 1 of Myf5 exon 1 and genotype 1 of POU1F1 of the NZW breed compared to genotypes for each gene can be considered candidate molecular markers associated with the improvement of growth traits in these breeds.

Milk-y Way: the impact of single-nucleotide polymorphisms on milk production traits in Kilis dairy goats.

This study aimed to investigate the impact of single-nucleotide polymorphisms (SNPs) on milk production traits in Kilis dairy goats by analyzing the genotypes of POU1F1, PRLR, -Lg, GH1, and GH2 genes and their association with lactation milk yield (LMY), lactation length (LL) and average daily milk yield (ADMY). Blood samples were collected from 227 goats, and genotyping was performed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). The results revealed that the frequencies of the genotypes varied among the genes. The polymorphisms were found to be significantly linked with milk production traits. These findings suggest that SNPs of POU1F1/AluI, PRLR/RsaI and -Lg/SacII are significantly associated with LMY and that the POU1F1-TC genotype, PRLR-TT genotype and -Lg-AB genotype are associated with higher LMY and ADMY. Additionally, the POU1F1-TC genotype was found to have a longer LL. However, no significant association was found between the GH1 and GH2 genotypes and LMY, LL and ADMY. Overall, this study provides valuable insights into the genetic factors influencing milk production traits in Kilis dairy goats, which can be utilized for the selection of high-yielding animals in breeding programs.

Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.

Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified the allelic variant spectrum of 11 causative genes in Turkish patients with CH. This study included 47 patients [21 girls (44.6%) and 26 boys (55.4%)] from 45 families. To identify the genetic etiology, we screened 11 candidate genes associated with CH using next-generation sequencing. To confirm and detect the status of the specific familial variant in relatives, Sanger sequencing was also performed. We identified 12 possible pathogenic variants in GHRHR, GH1, GLI2, PROP-1, POU1F1, and LHX4 in 11 patients (23.4%), of which six were novel variants: two in GHRHR, two in POU1F1, one in GLI2, and one in LHX4. In all patients, these variants were most frequently found in GLI2, followed by PROP-1 and GHRHR. Genetic causes were determined in only 23.4% of all patients with CH and 63% of molecularly diagnosed patients (7/11) from consanguineous families. Despite advances in genetics, we were unable to identify the genetic etiology of most patients with CH, suggesting the effect of unknown genes or environmental factors. More genetic studies are necessary to understand the etiology of CH.

Unveiling the identities of null cell tumours: Epigenomics corroborate subtle histological cues in pituitary neuroendocrine tumour/adenoma classification.

Pituitary neuroendocrine tumour (PitNET)/adenoma classification is based on cell lineage and requires immunopositivity for adenohypophysial hormones and/or transcription factors (TFs) SF1, TPIT, or PIT1. PitNET/adenomas lacking lineage affiliation are termed "null cell" tumours (NCTs). NCT diagnosis may be afflicted by methodological limitations and inconsistent diagnostic approaches. Previous studies have questioned the existence of true NCTs. In this study, we explore the epigenomic identities of PitNET/adenomas lacking clear TF-immunopositivity. 74 hormone-negative PitNET/adenomas were immunostained and scored for SF1, TPIT, and PIT1 expression. All tumours were classified as gonadotroph, corticotroph, PIT1-positive or "null cell". NCTs were subjected to global DNA methylation analysis. Epigenomic profiles of NCTs were compared to reference tumours using UMAP plotting and methylation-based classification. TF-immunostaining revealed definite lineage identity in 59 of 74 (79.7%) hormone-negative PitNET/adenomas. Of the remaining 15 NCTs, 13 demonstrated minimal and inconclusive nuclear SF1- or TPIT-expression (5 and 8, respectively). Two NCTs were entirely immunonegative. UMAP plotting and methylation-based classification demonstrated that the epigenomes of NCTs with minimal SF1- or TPIT-expression, were adequately affiliated with gonadotroph or corticotroph lineages, respectively. The two immunonegative NCTs were located near the corticotroph PitNET/adenomas via UMAP, while the methylation classifier could not match these two cases to predefined tumour classes. Epigenomic analyses substantiate lineage identification based on minimal TF-immunopositivity in PitNET/adenomas. This strategy dramatically decreases the incidence of NCTs and further challenges the legitimacy of NCTs as a distinct PitNET/adenoma subtype. Our study may be useful for guiding diagnostic efforts and future considerations of PitNET/adenoma classification.

Association of Genetic Polymorphisms of POU1F1 Gene on Twin Production in Egyptian Sheep and Goats

Association of Genetic Polymorphisms of POU1F1 Gene on Twin Production in Egyptian Sheep and Goats

Relationship of Polymorphisms of the Mutation (225131) of the pou1f1 Gene with some Productive Traits in Iraqi Camel Females (Camelus bactrianus).

Camels are semi-ruminant placental mammals, classified as two-toed, padded-footed mammals, and belong to the family Camelidae, which includes the one-humped camels (Camelus dromedaries), and the two-humped camels (Camelus bactrianus), llama, Alpaca, Vicuna, and Guanaco. The study used 50 Iraqi single-humped camel females who belonged to private fields in the AL-Furat AL-Awsat region, which involved three Iraqi cities (Babylon, Diwaniyah, and Muthanna). All the Biotechnological and Molecular Genetics analyses were performed in the Altakadum Laboratory, Baghdad, in order to determine the genotypes and their distribution ratios for the POU1F1 gene and the relationship of the Polymorphism of the gene with some productive traits, growth characteristics (weight and body dimensions) and blood biochemical parameters of animals. The mutation 225131 was in the second exon region, in which there was a change in the amino acid C.49 CAA>CAC Gln>His. Three genotypes were discovered in this mutation in the second studied piece, which included the region of the first intron and the second exon, with a length of 777 base pairs using DNA sequencing technology. The results indicated that there were highly significant differences (P≤0.01) in the distribution ratios of the genotypes resulting from the mutation. The results also showed a significant relationship between these genotypes with somebody dimensions, as there was a significant superiority (P≤0.05) for individuals with mutant CC genotype over the wild AA and hetero AC genotypes in each of the traits, body height from the front (220.66±1.76, 215.12±0.92, 212.80 ±2.33) cm and body length (186.66±1.20, 179.47±1.10, 170.00±4.96) cm and head length (55.00±2.08, 50.78±0.46, 51.20 ±1.31) cm for the mutant, wild and hetero, genotypes respectively. Concerning the characteristics of the length of the milking season, daily and total milk production, and its chemical components, there was no significant relationship between the genotypes resulting from the studied mutation.

Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.

Combined pituitary hormone deficiency (CPHD) is not a rare disorder, with a frequency of approximately 1 case per 4,000 live births. However, in most cases, a genetic diagnosis is not available. Furthermore, the diagnosis is challenging because no clear correlation exists between the pituitary hormones affected and the gene(s) responsible for the disorder. Next-generation sequencing (NGS) has recently been widely used to identify novel genes that cause (or putatively cause) CPHD. This review outlines causative genes for CPHD that have been newly reported in recent years. Moreover, novel variants of known CPHD-related genes (POU1F1 and GH1 genes) that contribute to CPHD through unique mechanisms are also discussed in this review. From a clinical perspective, variants in some of the recently identified causative genes result in extra-pituitary phenotypes. Clinical research on the related symptoms and basic research on pituitary formation may help in inferring the causative gene(s) of CPHD. Future NGS analysis of a large number of CPHD cases may reveal new genes related to pituitary development. Clarifying the causative genes of CPHD may help to understand the process of pituitary development. We hope that future innovations will lead to the identification of genes responsible for CPHD and pituitary development.

Relationship of the genotypes resulting from the mutation (233069) of the POU1F1 gene with milk production and body dimensions in Iraqi camel females (Camelus dromedarius)

The study was carried out by using 50 Iraqi single-humped camel females which belong to the private fields in the AL-Furat AL-Awsat region involving three cities (Babylon, Diwaniyah and Muthanna). This research was conducted to determine the genotypes and their distribution ratios for the POU1F1 gene, and the relationship of the polymorphism of the gene with some productive traits, growth characteristics and blood biochemical parameters. The mutation 233069 was in the region of third intron of third studied segment, which included second intron, third exon and third intron, with a length of 909 bp using DNA sequencing technology, as this mutation resulted in three genotypes wild GA, hetero GA and mutant AA . The results indicated that there were highly significant differences in the distribution ratios of the genotypes resulting from the mutation. The results showed that there were no significant effects between the genotypes with each of the length of the milk season, daily and total milk production, its chemical components and animal weight. The results of the study also showed that there was no significant relationship with body dimensions with the exception of body height from the front and length of the tail, as it outperformed. Individuals with hetero GA genotype on wild GG and mutant AA genotypes in terms of body height were (223.50±1.50, 215.12±0.88, 213.43±2.55) cm and tail length (58.50 ±1.50, 51.73 ±0.57, 52.28 ±0.86) cm for the genotypes hetero, wild and mutant genetics respectively. The results also showed significant differences between the genotypes and blood parameters with the exception of total protein, The individuals carrying the wild and mutant genotypes outperformed the individuals carrying the hetero genotypes in all of the traits glucose (103.34 ±0.73, 100.41 ±2.35, 55.31 ±15.08), cholesterol (90.09 ±0.64, 90.91 ±1.06, 47.18±1.92), and triglycerides (55.30 ±0.60, 55.43 ±1.46, 74.64 ±18.77) for the genotypes wild, mutant and hetero genetics respectively.

A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees

Pathogenic variants within the gene encoding the pituitary-specific transcription factor, POU class 1 homeobox 1 (POU1F1), are associated with combined pituitary hormone deficiency (CPHD), including growth hormone, prolactin, and thyrotropin stimulating hormone deficiencies. The aim of the study was to identify genetic aetiology in 10 subjects with CPHD from four consanguineous Sudanese families. Medical history, as well as hormonal and radiological information, was obtained from participants’ medical records. Targeted genetic analysis of the POU1F1 gene was performed in two pedigrees with a typical combination of pituitary deficiencies, using Sanger sequencing, and whole-exome sequencing was performed in the other two pedigrees, where hypocortisolism and additional neurologic phenotypes were also initially diagnosed. In POU1F1 gene (NM_001122757.2) a novel homozygous splice-site deletion—namely, c.744-5_749del—was identified in all 10 tested affected family members as a cause of CPHD. Apart from typical pituitary hormonal deficiencies, most patients had delayed but spontaneous puberty; however, one female had precocious puberty. Severe post-meningitis neurologic impairment was observed in three patients, of whom two siblings had Dyke–Davidoff–Masson syndrome, and an additional distantly related patient suffered from cerebral infarction. Our report adds to the previously reported POU1F1 gene variants causing CPHD and emphasises the importance of genetic testing in countries with high rates of consanguineous marriage such as Sudan. Genetic diagnostics elucidated that the aetiologies of hypopituitarism and brain abnormalities, identified in a subset of affected members, were separate. Additionally, as central hypocortisolism is not characteristic of POU1F1 deficiency, hydrocortisone replacement therapy could be discontinued. Elucidation of a genetic cause, therefore, contributed to the more rational clinical management of hypopituitarism in affected family members.

Association of POU1F1 gene polymorphism with pre-pubertal body weight in Attappady Black goats of India

The present study was carried out to identify single nucleotide variations in Pituitary specific Transcription factor – 1 (POU1F1) gene and evaluate their association with body weight at different stages of growth before the onset of puberty in meat-type Attappady Black goats. A total of 100 Attappady goats were screened for polymorphism using PCR-SSCP. Representative samples of each SSCP pattern were sequenced to ascertain the genotypes. Four fragments of POU1F1, 170 bp (exon 1), 234 bp (exon 3), 200 bp (exon 4) and 232 bp (exon 6) were analyzed. The 170 bp and 200 bp fragments were found to be monomorphic. The 234 bp fragment showed two diplotypes (GG and GA) with one synonymous single nucleotide polymorphism (g 0.42 C > T) in exon 3. The GA heterozygotes had significantly higher (p ≤ 0.05) body weight than GG homozygotes. at six months of age. The 232 bp fragment showed two diplotypes (CC and TC) with one novel synonymous single nucleotide polymorphism (g 0.180 C > T) in exon 6. The TC variants had significantly higher (p ≤ 0.05) body weight at six and nine months of age compared to the CC variants. The POU1F1 polymorphisms in the present study significantly contributed to variation in body weights at the onset of puberty at six and nine months of age indicating the role of POU1F1-mediated transcriptional regulation of genes coding for the various hormones of the neuro-endocrine system influencing growth and sexual maturity. The study suggests the possibility of using POU1F1 polymorphisms as markers for the selection of goats for higher pre-pubertal body weights in the genetic improvement programmes.

Polymorphism Study of POU1F1 Gene in Mandya and NARI-Suwarna Sheep

Background: The mutations in POU1F1 gene result in deficiency of GH, PRL and TSH-â expression and thus have an indirect effect on development and reproduction. The present study was conducted to determine and compare the polymorphism of POU1F1 gene in Mandya and NARI-Suwarna Sheep. Methods: Blood samples were collected from 50 each of Mandya and NARI-Suwarna sheep and genomic DNA was isolated following Miller’s high salt method. PCR-RFLP analysis was performed for exon 3 and exon 4 regions of POU1F1 gene, whereas, PCR-SSCP analysis was performed for exon 6 region of POU1F1 gene. Result: The PCR products of sizes 365 bp, 508 bp and 501 bp for exon 3, exon 4 and exon 6 regions of POU1F1 gene, respectively were successfully amplified. PCR-RFLP analysis of exon 3 and exon 4 regions of POU1F1 gene with AluI and EcoRI restriction enzymes, respectively revealed monomorphism in both Mandya and NARI-Suwarna sheep. The PCR-SSCP analysis of exon 6 region of POU1F1 gene revealed two patterns, P1 and P2 with frequencies of 98 and 2 per cent, respectively in Mandya sheep and 90 and 10 per cent, respectively in NARI-Suwarna sheep. The alignment of P1 and P2 pattern sequences revealed two SNPs (109 G greater than C and 112 T greater than A) in Mandya sheep, whereas 3 SNPs (218 T greater than G, 225 G greater than A and 264 T greater than A) were revealed in NARI-Suwarna sheep. Polymorphism was successfully established at exon 6 region of POU1F1 gene.

Detection of the effect of PIT-1 gene genotypes on some productive traits in Holstein cattle

The research was conducted at the Taj Al-Nahrain cattle station in Al-Diwaniyah governorate in Iraq on a sample of 85 Holstein cows imported from Germany, which were selected during the third season of milk production, in order to determine the genotypes of the PIT-1 gene and its relationship to a number of production traits. The PCR product (451bp) of the PIT-1 gene was digested using the Hinf1 restriction enzyme, and the digestion results showed that the studied genetic segment of the POU1F1 gene appeared in three genotypes (AA, AB, and BB) with percentages of 55.3, 42.6, 2.1%, respectively, and there were highly significant differences (P≤0.01) between the distribution of these percentages, and the A allele (0.766) was superior to the B allele (0.234). The results of the analysis of variance showed that the effect of the genotype of the POU1F1 gene on the characteristics of milk production (daily milk production, total milk production, peak production) was not significant except in the characteristic of peak milk production in favor of the BB genotype at a rate of 538.50 kg on each of the genotypes AA and AB while the results did not show a significant effect between the genotypes (AA, AB, BB) in both the daily milk production rate and the total milk production. It was found that the effect of the POU1F1 gene on body dimension traits (body length, frontal body height, posterior body height) was significant (P≤0.05) in body length in favor of the BB genotype (164 cm) on each of the genotypes AA and AB, at 157,780. and 156,347 cm, respectively, while there were no significant differences between the genotypes in the anterior height and posterior height of the body.

Study of the POU1f1 gene polymorphisms were associated with chicken growth traitsof Ross 308 broilers

This experiment was conducted in the poultry field of the Department of Livestock at the College of Agriculture and Marshlands /University of Thi-Qar for 42 days from 13/11 to 24/12/2020. The experiment included raising 100 broiler chickens of Ross 308 strain. The aim of this study was to detect the polymorphism of the PIT-1 gene in exon 6 of ROSS 308 broilers and their relationship to production performance with some biochemical blood traits. The PIT-1 gene is a transcription factor specific to the anterior lobe of the pituitary gland, and is involved in pituitary cell differentiation and production by mediating transcription of Growth hormone (GH) and Prolactin (PRL) and thyroid hormone (TSH-β) stimulation which make it an important gene for its effect on the productive traits in broilers. DNA was extracted from 100 birds, and the polymerase chain reaction and the Sequencing technology of Nitrogen Bases were used and the detection of genetic mutations occurring in them, and the results showed the presence of a point mutation (C1669T) in three genetic polymorphisms, namely CC , CT, and TT. There were highly significant differences (P&gt;0.01) in the distribution ratios of genotypes, where the CC genotype scored the highest (82%), followed by the CT genotype(12%), and then the TT genotype(6%), and that the allelic frequency of the C allele is superior to that of the T allele. where they were 0.88 and. 0.12, respectively, and it was found that there was a significant difference (P&lt;0.05) for the genotypes of the mutation (C1669T) on carcass weight, Dressing ratio, week body weight, relative breast weight, as well as serum total protein concentration at 42 days of age.&#x0D;

Study of the POU1f1 gene polymorphisms were associated with chicken growth traitsof Ross 308 broilers

Study of the POU1f1 gene polymorphisms were associated with chicken growth traitsof Ross 308 broilers

Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature

Failure to thrive is one of the most common complaints in the endocrinology and genetics clinic. An 8-month-old girl with presentation of motor developmental delay, failure to thrive, and midline facial defects, with history of hypoglycemia at birth and central congenital hypothyroidism (CCH), was brought to our genetic clinic. Hormone test demonstrated combined pituitary hormone deficiency with growth hormone deficiency (GHD), central hypothyroidism, and hypoprolactinemia. Brain magnetic resonance imaging (MRI) showed anterior pituitary hypoplasia (APH), abnormal pituitary stalk, and preserved posterior pituitary lobe. Whole exome sequence (WES) identified a compound heterozygous mutation of the POU1F1 gene: c.649C>T (p.Arg217Ter) and c.662T>C (p.Ile221Thr), which are de novo mutation and inherited from mother, respectively. The patient's phenotype was consistent clinically with congenital hypopituitarism due to the POU1F1 gene mutation. Based on our literature review, this is the first report of the c.662T>C mutation, to the best of our knowledge. Our study demonstrates the power of WES for early diagnosis of congenital hypopituitarism with its relative phenotype for improving prognosis and preventing irreversible deficit.

​POU1F1 Gene Polymorphism and its Associations with Body Weight of Osmanabadi Goat

Background: Osmanabadi is the premium meat type goat breed of Maharashtra, known for its adaptability and reproductive efficiency. Identification of superior germplasm and incorporating them into breeding programme is the need of hour for augmenting productivity of Osmanabadi as well as other indigenous goat breeds. Hence, the present research was aimed to study Pituitary Specific Transcription Factor I (POU1F1) gene polymorphism and its associations with body weight of Osmanabadi goat. Methods: Genomic DNA was extracted from 217 blood samples of randomly selected Osmanabadi goats. The 450 bp fragment of POU1F1 gene encompassing exon-6 and its flanking region (3’UTR) was PCR amplified. The PCR amplicon was subjected to RFLP using AluI and PstI restriction enzymes to identify polymorphism at nucleotide position 174 (T greater than C) in exon 6 and at nucleotide position 110 (T greater than C) in the 3’UTR of POU1F1 gene, respectively. The association of the observed allelic variants / genotypes with body weight of the animals was performed using One-way ANOVA. Result: The AluI PCR-RFLP of 450 bp amplicon of POU1F1 gene in Osmanabadi goats revealed polymorphism with three different genotypes viz., ‘CC’, ‘TT’ and ‘TC’. The observed frequencies for TT, TC and CC genotypes were 0.604, 0.355 and 0.041 respectively. The frequencies of T and C alleles were found to be 0.781 and 0.219, respectively. However, PstI PCR-RFLP revealed monomorphic 3’UTR of POU1F1 gene with single TT genotype. We observed significant differences (P less than 0.01) between various genotypes at AluI exon-6 locus of POU1F1 gene and body weights at birth, 3 and 6 months of Osmanabadi goat. Highest body weight was recorded for TT genotype followed by TC and CC genotypes in all three age groups. Our findings indicate that the AluI PCR-RFLP locus of the exon-6 of POU1F1 gene can be used as a potent molecular marker for selection of superior stock of Osmanabadi goats.

Characterization of third exonic region of POU1F1 gene in the Osmanabadi breed of goat

The POU1F1 gene has been identified as one of the major gene for productivity, and its polymorphism is known to be associated with important production traits of various livestock. The present study was designed to investigate POU1F1 (exon-3) gene polymorphism and its association with body weight in Osmanabadi goat (n=217). The PCRSSCP and DNA sequencing revealed single ‘C’ &gt; ‘T’ transition at nucleotide position 42 in the third exonic region (225 bp) POU1F1 gene of Osmanabadi goat. Genotyping revealed ‘TT’ and ‘CC’ genotypes with predominance of ‘C’ allele in the Osmanabadi goat population. Though no association between the said SNP and body weight was observed, these findings can be extended to find the genetic variability of POU1F1 gene associated with growth traits of various Indian goat breeds.