23
DOI: https://doi.org/10.1186/s43141-020-0020-5
English
eng
Mahrous, Karima F.
Contributor
<div id="abs0005" style="margin: 0px; padding: 0px; color: rgb(31, 31, 31); font-family: ElsevierGulliver, Georgia, "Times New Roman", Times, STIXGeneral, "Cambria Math", "Lucida Sans Unicode", "Microsoft Sans Serif", "Segoe UI Symbol", "Arial Unicode MS", serif, sans-serif; font-size: 16px;"><h3 class="u-h4 u-margin-m-top u-margin-xs-bottom" id="sect0010" style="margin-right: 0px; margin-left: 0px; padding: 0px; margin-top: 24px !important; margin-bottom: 8px !important; font-size: 20px !important; line-height: 30px !important;">Background</h3><div class="u-margin-s-bottom" id="sp0045" style="margin-top: 0px; margin-right: 0px; margin-left: 0px; padding: 0px; margin-bottom: 16px !important;">Leptin (LEP) regulates the <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/glucose-homeostasis" title="Learn more about glucose homeostasis from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">glucose homeostasis</a><span style="margin: 0px; padding: 0px;"><span style="margin: 0px; padding: 0px;"> directly and centrally by the regulation of the <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/insulin-level" title="Learn more about insulin levels from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">insulin levels</a> or indirectly by alternation of the levels of the other </span><a href="https://www.sciencedirect.com/topics/immunology-and-microbiology/glucose-metabolism" title="Learn more about glucose metabolism from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">glucose metabolism</a><span style="margin: 0px; padding: 0px;"> regulator hormones. The present investigation studied the polymorphism in LEP gene which is related to fertility in 81 female Egyptian river <a href="https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/buffalo" title="Learn more about buffalo from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">buffalo</a>.</span></span></div></div><div id="abs0010" style="margin: 0px; padding: 0px; color: rgb(31, 31, 31); font-family: ElsevierGulliver, Georgia, "Times New Roman", Times, STIXGeneral, "Cambria Math", "Lucida Sans Unicode", "Microsoft Sans Serif", "Segoe UI Symbol", "Arial Unicode MS", serif, sans-serif; font-size: 16px;"><h3 class="u-h4 u-margin-m-top u-margin-xs-bottom" id="sect0015" style="margin-right: 0px; margin-left: 0px; padding: 0px; margin-top: 24px !important; margin-bottom: 8px !important; font-size: 20px !important; line-height: 30px !important;">Results</h3><div class="u-margin-s-bottom" id="sp0050" style="margin-top: 0px; margin-right: 0px; margin-left: 0px; padding: 0px; margin-bottom: 16px !important;"><span style="margin: 0px; padding: 0px;">The PCR-RFLP pattern of the gene using the <a href="https://www.sciencedirect.com/topics/agricultural-and-biological-sciences/restriction-enzyme" title="Learn more about restriction enzyme from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">restriction enzyme</a><span style="margin: 0px; padding: 0px;"><span style="margin: 0px; padding: 0px;"><span style="margin: 0px; padding: 0px;"> Eco91I showed that all the animals had monomorphic pattern in the studied gene which consists of CC. A 511-bp fragment from LEP gene was amplified and sequenced. The homology between the amplified LEP gene fragment in buffalo and cattle, <a href="https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/sheep" title="Learn more about sheep from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">sheep</a>, </span><a href="https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/goat" title="Learn more about goat from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">goat</a><span style="margin: 0px; padding: 0px;">, human, and <a href="https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/mouse" title="Learn more about mouse from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">mouse</a> on the </span></span><a href="https://www.sciencedirect.com/topics/immunology-and-microbiology/nucleotide-sequence" title="Learn more about nucleotides sequence from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">nucleotides sequence</a> level was 99, 97, 97, 87, and 79%, respectively, and on the translated </span></span><a href="https://www.sciencedirect.com/topics/agricultural-and-biological-sciences/amino-acid" title="Learn more about amino acids from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">amino acids</a><span style="margin: 0px; padding: 0px;"> sequence level was 100, 98, 98, 85, and 82%, respectively. Several <a href="https://www.sciencedirect.com/topics/immunology-and-microbiology/single-nucleotide-polymorphism" title="Learn more about SNPs from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">SNPs</a><span style="margin: 0px; padding: 0px;"> were detected; among them, the T27C SNP disrupted an intronic splicing silencer. The A114G, A310G, G263A, and G379A <a href="https://www.sciencedirect.com/topics/agricultural-and-biological-sciences/single-nucleotide-polymorphism" title="Learn more about SNPs from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">SNPs</a><span style="margin: 0px; padding: 0px;"><span style="margin: 0px; padding: 0px;"> disrupt <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/exonic-splicing-enhancer" title="Learn more about exonic splicing enhancers from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">exonic splicing enhancers</a><span style="margin: 0px; padding: 0px;">, and the last two <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/single-nucleotide-polymorphism" title="Learn more about SNPs from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">SNPs</a> create new exonic splicing enhancers. The A114G, C163A, A211G, G288A, A310G, A322G, G330C, C348T, T360C, and G379A SNPs cause S71G, T87 N, N103S, E129K, E136G, Y140C, E143Q, R149W, S153P, and R159Q </span></span><a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/amino-acids" title="Learn more about amino acids from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">amino acids</a> mutations. N103S, E129K, E136G, Y140C, E143Q, and S153P were classified as deleterious mutations. Y140, E143, N103, and R149 were the most conserved among the mutated amino acids. S71G only increased the stability of the leptin protein while the remaining mutations decreased it.</span></span></span></div></div><div id="abs0015" style="margin: 0px; padding: 0px; color: rgb(31, 31, 31); font-family: ElsevierGulliver, Georgia, "Times New Roman", Times, STIXGeneral, "Cambria Math", "Lucida Sans Unicode", "Microsoft Sans Serif", "Segoe UI Symbol", "Arial Unicode MS", serif, sans-serif; font-size: 16px;"><h3 class="u-h4 u-margin-m-top u-margin-xs-bottom" id="sect0020" style="margin-right: 0px; margin-left: 0px; padding: 0px; margin-top: 24px !important; margin-bottom: 8px !important; font-size: 20px !important; line-height: 30px !important;">Conclusion</h3><div class="u-margin-s-bottom" id="sp0055" style="margin-top: 0px; margin-right: 0px; margin-left: 0px; padding: 0px; margin-bottom: 16px !important;">Four SNPs were revealed among the tested animals. Twenty-one SNPs were found between the sequenced <a href="https://www.sciencedirect.com/topics/immunology-and-microbiology/amplicon" title="Learn more about amplicon from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">amplicon</a><span style="margin: 0px; padding: 0px;"> and the buffalo records in the Genbank. Some SNPs were predicted to have several effects on different <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/biological-phenomena-and-functions-concerning-the-entire-organism" title="Learn more about biological processes from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">biological processes</a><span style="margin: 0px; padding: 0px;"> like <a href="https://www.sciencedirect.com/topics/immunology-and-microbiology/rna-splicing" title="Learn more about mRNA splicing from ScienceDirect's AI-generated Topic Pages" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">mRNA splicing</a>, protein stability, and the gene functions.</span></span></div></div>
Elsevier
December 2020
pdf
Journal of Genetic Engineering and Biotechnology
Detection of polymorphism within leptin gene in Egyptian river buffalo and predict its effects on different molecular levels
mixed material
Elsevier