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Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

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Related Experiment Video

Updated: Jun 3, 2026

Sample Preparation and Analysis of RNASeq-based Gene Expression Data from Zebrafish

Sample Preparation and Analysis of RNASeq-based Gene Expression Data from Zebrafish

Published on: October 27, 2017

Polymorphisms for 7 expressed sequence tags showing marbling-associated expression changes.

Shin Sukegawa¹, Takahisa Yamada, Seiki Sasaki

¹Research and Development Center, Nippon Meat Packers, Inc., Tsukuba, Ibaraki 300-2646, Japan.

Research Communications in Molecular Pathology and Pharmacology

|April 8, 2011

Summary

Researchers identified genetic variations in expressed sequence tags (ESTs) linked to beef marbling. A specific single nucleotide polymorphism (SNP) in the ribosomal protein L27a (RPL27A) gene may influence marbling traits in cattle.

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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

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Published on: June 24, 2021

Area of Science:

Animal Genetics
Molecular Biology
Beef Production

Background:

Expressed sequence tags (ESTs) show differential expression in bovine longissimus muscle between low-marbled and high-marbled steers.
Understanding genetic factors influencing marbling is crucial for beef quality improvement.

Purpose of the Study:

To detect single nucleotide polymorphisms (SNPs) in the 5' flanking regions of 7 previously identified ESTs.
To investigate the association of these SNPs with marbling traits in cattle.

Main Methods:

Analysis of 7 EST sequences (c2-11#2, c3-3, c20-29, c22-3, c26-18#1, c26-42, and g5-10) for SNPs.
Comparison of allelic distribution of SNPs between low-marbled and high-marbled steer groups.
Genotyping of animals with extreme predicted breeding values for marbling.

Main Results:

Single nucleotide polymorphisms (SNPs) were detected in the 5' flanking regions of the 7 ESTs.
A significant difference in allelic distribution was observed for a SNP in the c2-11#2 EST between steers with extremely high and low predicted breeding values for marbling.
The c2-11#2 EST sequence contains the ribosomal protein L27a (RPL27A) gene.

Conclusions:

A specific SNP within the RPL27A gene, identified through the c2-11#2 EST, is potentially associated with variations in gene expression and marbling traits in cattle.
This finding provides a genetic marker for marbling quality in beef cattle.