This web page was produced as an assignment for Genetics 564, an undergraduate course at UW-Madison, Genetics 564
PSAP in humans
PSAP is located in the 10th chromosome of humans. The image below shows a zoomed in picture of a section of the 10th chromosome. The region that encodes for PSAP is labeled and highlighted in red.
Where do mutations in the gene occur?
Mutations that lead to Gaucher Disease occur in the third Sap B domain of the protein. Bellow is an image, where a few of the mutations have been mapped on the two-dimensionally folded protein. It is interesting to note that most of the mutations occur in the disulfide bride of the protein.
What is homology?
Homologous traits are traits that are shared between two or mores species because they were shared in a common ancestor. For example, both humans and pigs have similar hearts. The idea behind homologous traits can be examining on a more molecular scale by understanding homologous genes.
Gene evolve in a similar way to traits. Over the course of evolution changes to the genomic sequence (mutations) results in different genes that may alter their function. Through the use of bioinformatic tools such as BLAST, homologous genes can be recognized by comparing DNA sequences between organisms.
BLAST can compare sequences of DNA, mRNA, or even proteins. BLAST aligns the sequence of interest with other sequences of similar patterns. It also gives a "% identity", which measures the percentage of nucleotides (in genes) or amino acids (in proteins) that match between the two sequences. The ability to recognize genes and proteins as homologues provides researchers with valuable information. Not only can the perform experiments in model organisms, but there may already be annotations on the homologous sequence.
Gene evolve in a similar way to traits. Over the course of evolution changes to the genomic sequence (mutations) results in different genes that may alter their function. Through the use of bioinformatic tools such as BLAST, homologous genes can be recognized by comparing DNA sequences between organisms.
BLAST can compare sequences of DNA, mRNA, or even proteins. BLAST aligns the sequence of interest with other sequences of similar patterns. It also gives a "% identity", which measures the percentage of nucleotides (in genes) or amino acids (in proteins) that match between the two sequences. The ability to recognize genes and proteins as homologues provides researchers with valuable information. Not only can the perform experiments in model organisms, but there may already be annotations on the homologous sequence.
PSAP Genomic Sequence Homologous
Conclusions |
Hylobates concolor leucogenys (gibbon)
Nomascus leucogenys prosaposin (PSAP) XM_003271215.2 97% identity |
PSAP is well conserved in vertebrates. In other vertebrate animals, no homologues could be found. In primates especially, there has been very little evolution of the gene.
What is gene ontology?
The gene ontology (GO) initiative is an effort to provide consistent descriptions and categorizations of gene products. Three vocabularies, or ontologies, are used to describe gene products: molecular functions, cellular components, and biological processes.
PSAP gene ontology
This image shows the gene ontology for PSAP. It localizes in the lysosome, is involved in the sphingolipid metabolic process, and is involved in lipid binding. This information was found using the Gene Ontology Consortium.
Sources cited:
Image of human chromosome: http://ghr.nlm.nih.gov/handbook/basics/howmanychromosomes
Image of chromosome 10: http://www.ncbi.nlm.nih.gov/gene/5660
Gene ontology: http://www.geneontology.org/doc/GO-logo/
Chimpanzee: http://www.clipartbest.com/chimpanzee-clip-art
Mouse: http://www.clker.com/clipart-simple-cartoon-mouse-2.html
Gorilla: http://photolabels.co/animals/628966/gorilla-cartoon-character-mascot-design/
Cat: http://www.clipartpanda.com/categories/cat-20clip-20art
Macaque: http://www.clipartpanda.com/categories/cat-20clip-20art
Gibbon: http://hannahv92.deviantart.com/art/Gibbon-finished-306957142
Image of human chromosome: http://ghr.nlm.nih.gov/handbook/basics/howmanychromosomes
Image of chromosome 10: http://www.ncbi.nlm.nih.gov/gene/5660
Gene ontology: http://www.geneontology.org/doc/GO-logo/
Chimpanzee: http://www.clipartbest.com/chimpanzee-clip-art
Mouse: http://www.clker.com/clipart-simple-cartoon-mouse-2.html
Gorilla: http://photolabels.co/animals/628966/gorilla-cartoon-character-mascot-design/
Cat: http://www.clipartpanda.com/categories/cat-20clip-20art
Macaque: http://www.clipartpanda.com/categories/cat-20clip-20art
Gibbon: http://hannahv92.deviantart.com/art/Gibbon-finished-306957142
Mitchell Coplan, [email protected], 5/10/15, gen564