<div>Background: The mutations in POU1F1 gene result in deficiency of GH, PRL and TSH-&acirc; 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.&nbsp;&nbsp; 
 
Methods:&nbsp;Blood samples were collected from 50 each of Mandya and NARI-Suwarna sheep and genomic DNA was isolated following Miller&rsquo;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.&nbsp; 
 
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&gt;C and 112 T&gt;A) in Mandya sheep, whereas 3 SNPs (218 T&gt;G, 225 G&gt;A and 264 T&gt;A) were revealed in NARI-Suwarna sheep. Polymorphism was successfully established at exon 6 region of POU1F1 gene.&nbsp;</div>

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

<div>Background: POU1F1 is known as a major candidate gene coding for pituitary-specific transcription factor-1 regulating the production of anterior pituitary hormones like GH, TSH, LH, FSH and prolactin in small ruminants. However, little is known about the genetic variability of caprine POU1F1 gene in Indian breeds. Hence, the present study aimed at the identification of single nucleotide polymorphisms in the exon 3 region of POU1F1 and their association with body weight and milk production in Malabari goats.&nbsp; 
&nbsp;</div>

<div style="text-align:justify">Methods: The present study was conducted during 2016-2018 on 100 Malabari goats at the University Goat and Sheep Farm, Mannuthy. Genomic DNA was extracted using standard phenol-chloroform method. The POU1F1 exon 3 locus was PCR amplified using appropriate primers. The 234 bp PCR product was subjected to single-strand conformation polymorphism (SSCP) analysis on 12% PAGE gel and silver-stained. The different SSCP patterns were sequenced and homologous sequences identified using Blast algorithms. Allelic-genotypic frequencies and the observed-expected heterozygosity at the locus were estimated. Data on body weights at birth, three, six, nine months of age and parity-wise lactation milk yield were used to find the association of POU1F1 exon 3 variants with body weights and milk yield using one-way ANOVA in General Linear Models for fixed effects.&nbsp;</div>

<div>&nbsp;</div>

<div style="text-align:justify">Result: PCR-SSCP revealed GG, GA genotypes with frequencies of 0.44 and 0.56 and G and A alleles with frequencies of 0.72 and 0.28. The observed and expected heterozygosity for the locus were 0.5657 and 0.4077 respectively. Sequencing of the PCR products revealed a synonymous single nucleotide polymorphism (g. 42C&gt;T). GG homozygotes had higher body weight while GA heterozygotes had higher milk yield (p&lt;0.05). It was concluded that the polymorphic exon 3 locus significantly contributed to variation in pre-pubertal body weight and milk yield and hence may be employed in the marker-assisted selection programmes for Malabari goats.&nbsp;</div>

<div>Genetic Variability in Exon 3 Region of POU1F1 Gene and its Effect on Body Weight and Milk Yield in Malabari Goats</div>

<div>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.&nbsp; 
 
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&rsquo;UTR) was PCR amplified.&nbsp;The PCR amplicon was subjected to RFLP using AluI and PstI restriction enzymes to identify polymorphism at nucleotide position 174 (T&gt;C) in exon 6 and at nucleotide position 110 (T&gt;C) in the 3&rsquo;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.&nbsp; 
 
Result: The AluI PCR-RFLP of 450 bp amplicon of POU1F1 gene in Osmanabadi goats revealed polymorphism with three different genotypes viz., &lsquo;CC&rsquo;, &lsquo;TT&rsquo; and &lsquo;TC&rsquo;. 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&rsquo;UTR of POU1F1 gene with single TT genotype. We observed significant differences (P&lt;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.&nbsp;&nbsp;</div>

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

Genetic Variability in Exon 3 Region of POU1F1 Gene and its Effect on Body Weight and Milk Yield in Malabari Goats

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

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