Isn't that redundant? Seeing how the data is from UCSC, Blat to hg19 is just self-affirmation, no? I'm curious on why this is seen - why snoRNAs are found in multiple copies.
I recently downloaded a list of genes from the UCSC Genome browser from the "Table Browser" section. I used the following setting from the dropdown menu:
clade: Mammal
genome: Human
assembly: Feb.2009(GRCh37/hg19)
group: Genes and Gene Predictions
track: RefSeq Genes
table: refGene
region: genome
After unzipping the file, I had a table with the following columns:
- #bin
- name
- chrom
- strand
- txStart
- txEnd
- cdsStart
- cdsEnd
- exonCount
- exonStarts
- exonEnds
- score
- name2
- cdsStartStat
- cdsEndStat
- exonFrames
At some point, I noticed something weird and ran the following command:
grep "SNORD141B" All_Genes.tsv | cut -f3,7,8,13 | less
which returned:
chr5 14652491 14652491 SNORD141B
chr6 74228161 74228161 SNORD141B
chr9 135895921 135895921 SNORD141B
How could this gene exist on three different chromosomes? I've looked up "snord141b" on Gene Cards and found nothing. This is not an urgent or important question for me but I am perplexed nonetheless. Any clue how/why this gene shows up in these three different genomic regions?
2 answers
It is a small nuclueolar RNA (snoRNA). These are known to be present in multiple copies in the genome, I think.
The annotations are right.
To prove it to yourself, grab the sequence here: https://www.ncbi.nlm.nih.gov/nuccore/NR_132981
Blat it here: https://genome.ucsc.edu/cgi-bin/hgBlat
and look at the results:
ACTIONS QUERY SCORE START END QSIZE IDENTITY CHRO STRAND START END SPAN
---------------------------------------------------------------------------------------------------
browser details YourSeq 105 1 105 105 100.0% 5 - 14652278 14652382 105
browser details YourSeq 105 1 105 105 100.0% 9 + 133020430 133020534 105
browser details YourSeq 104 1 105 105 100.0% 6 - 73518245 73518438 194
Sure enough - this RNA species is present several times in the genome. :)
a) Why wouldn't there be multiple copies? Evolution isn't designed for non-redundancy - Gene duplications happen all the time. Either this is a recent event in the human lineage, or there is a high level of constraint on the sequence that keeps them all around.
b) blat tells us that it's not just an annotation error, or different sequences with a namespace collision. This sequence really does appear three times.
In general RNA genes are in multiple copies because a lot of RNA may be needed in a short amount of time. See: http://www.ncbi.nlm.nih.gov/books/NBK26887/
In contrast, the RNA components of the ribosome are final gene products, and a growing mammalian cell must synthesize approximately 10 million copies of each type of ribosomal RNA in each cell generation to construct its 10 million ribosomes. Adequate quantities of ribosomal RNAs can be produced only because the cell contains multiple copies of the rRNA genes that code for ribosomal RNAs (rRNAs). Even E. coli needs seven copies of its rRNA genes to meet the cell's need for ribosomes. Human cells contain about 200 rRNA gene copies per haploid genome, spread out in small clusters on five different chromosomes (see Figure 4-11), while cells of the frog Xenopus contain about 600 rRNA gene copies per haploid genome in a single cluster on one chromosome
Log in to answer this question.
Like rDNA repeat which has ~400 copies on 5 chromosomes: entire human rDNA