The analysis of synteny (i.e., conserved gene content and order in a genomic segment across species) can help understand the trajectory of duplicated genes through evolution. In particular, synteny analyses are widely used to investigate the evolution of genes derived from whole-genome duplication (WGD) events, as they can reveal genomic rearrangements that happened following the duplication of all chromosomes. However, synteny analysis are typically performed in a pairwise manner, which can be difficult to explore and interpret when comparing several species. To understand global patterns of synteny, Zhao and Schranz (2017) proposed a network-based approach to analyze synteny. In synteny networks, genes in a given syntenic block are represented as nodes connected by an edge. Synteny networks have been used to explore, among others, global synteny patterns in mammalian and angiosperm genomes (Zhao and Schranz 2019), the evolution of MADS-box transcription factors (Zhao et al. 2017), and infer a microsynteny-based phylogeny for angiosperms (Zhao et al. 2021). syntenet is a package that can be used to infer synteny networks from protein sequences and perform downstream network analyses that include:
Network clustering using the Infomap algorithm;
Phylogenomic profiling, which consists in identifying which species contain which clusters. This analysis can reveal highly conserved synteny clusters and taxon-specific ones (e.g., family- and order-specific clusters);
Microsynteny-based phylogeny reconstruction with maximum likelihood, which can be achieved by inferring a phylogeny from a binary matrix of phylogenomic profiles with IQTREE2.
syntenet can be installed from Bioconductor with the following code:
if(!requireNamespace('BiocManager', quietly = TRUE))
install.packages('BiocManager')
BiocManager::install("syntenet")
# Load package after installation
library(syntenet)
For this vignette, we will use the proteomes and gene annotation of the algae species Ostreococcus lucimarinus and Ostreococcus sp RCC809, which were obtained from Pico-PLAZA 3.0 (Vandepoele et al. 2013).
# Protein sequences
data(proteomes)
head(proteomes)
#> $Olucimarinus
#> AAStringSet object of length 1901:
#> width seq names
#> [1] 911 MTTMADERASIARVSVVKYGAI...VQLYTYPGSTNDPNFLLKLA* OL01G00010
#> [2] 789 MGGRRCFCSRSSPVGVGAPAPA...PPQCGADIEAGSEPPPDKCG* OL01G00020
#> [3] 618 MTRAKDAIVVDDGNDDDDDDDD...RDASASLALALAFSSEESVV* OL01G00030
#> [4] 547 MPTKAQCWVVSYARVRDGASRS...TGSVSARASIFGEQASFRKA* OL01G00040
#> [5] 319 MFTASHTTSKVTLRARVATQPR...HNGMALWRETTPKDSLIPAL* OL01G00050
#> ... ... ...
#> [1897] 106 MAANDGETKLPEDGWIQPCFAC...RAIVDQVGGEHLKGSLMPIE* OL03G05910
#> [1898] 70 RMGIVKLATDGSVWVHSPIELD...QQWKDAYPGATLYACPGLKSK OL03G05920
#> [1899] 680 MDDAHDARWATTSARDGERARA...RSVGPSASDKILEALFPVAD* OL03G05930
#> [1900] 179 MRAVRERSKANLAARVKEEATR...ELERTRELFARARVRAYECI* OL03G05940
#> [1901] 83 MFVREARRAIPRFIKDPPQAFH...ESGDVRSVEGEVCGAVLVDE* OL03G05950
#>
#> $OspRCC809
#> AAStringSet object of length 1433:
#> width seq names
#> [1] 274 MASTTGSAARRVFVDVEKTVNG...DVLSLGQGSLSGESSSSDEE* ORCC809_01G00010
#> [2] 175 MDQMRAANAQRSYLLFFVLFFL...SRRLLGRLDSEHTDLHPSWR* ORCC809_01G00020
#> [3] 403 MTAPRVRASRRATATAAATVTA...LTERDLRYMEPKATIEEWMG* ORCC809_01G00030
#> [4] 217 MTIDADGDDTLAPHAPAHGEVS...LIRLRGVEKTPTVDPPPPPP* ORCC809_01G00040
#> [5] 1691 RIEADEKSLLVFGKESPVRTAC...VRMGNNVVTSRYASSESEEDV ORCC809_01G00050
#> ... ... ...
#> [1429] 428 MVDANATTQTFVLEAEQELRVE...DLPSNVLLVGNLKWLGEDGK* ORCC809_03G02980
#> [1430] 378 MSVPRTTLRRIPLGNARDVLVT...ETLKAIDAVHAQCRDPCIAT* ORCC809_03G02990
#> [1431] 1156 MRATSAPSIVSFVARVACLFVA...CAFGTSLASFVVERARRLEN* ORCC809_03G03000
#> [1432] 541 MAITVFLTDHGRRASALTFLVV...GFGVGAVKFMLAPEMVKSLA* ORCC809_03G03010
#> [1433] 289 MSLSSLRSFSRSISSAPGGRSC...EPEEPEPEEPEPEEPEEPEP* ORCC809_03G03020
# Annotation (ranges)
data(annotation)
head(annotation)
#> GRangesList object of length 2:
#> $Olucimarinus
#> GRanges object with 1903 ranges and 4 metadata columns:
#> seqnames ranges strand | type ID Name
#> <Rle> <IRanges> <Rle> | <factor> <character> <character>
#> [1] Chr_1 939-3671 - | gene OL01G00010 OL01G00010
#> [2] Chr_1 3907-6927 + | gene OL01G00020 OL01G00020
#> [3] Chr_1 7085-9160 + | gene OL01G00030 OL01G00030
#> [4] Chr_1 9830-11480 + | gene OL01G00040 OL01G00040
#> [5] Chr_1 11467-12599 - | gene OL01G00050 OL01G00050
#> ... ... ... ... . ... ... ...
#> [1899] Chr_3 977435-977752 - | gene OL03G05910 OL03G05910
#> [1900] Chr_3 978702-978911 - | gene OL03G05920 OL03G05920
#> [1901] Chr_3 979281-981320 - | gene OL03G05930 OL03G05930
#> [1902] Chr_3 981778-982314 + | gene OL03G05940 OL03G05940
#> [1903] Chr_3 982498-982746 + | gene OL03G05950 OL03G05950
#> gene_id
#> <character>
#> [1] OL01G00010
#> [2] OL01G00020
#> [3] OL01G00030
#> [4] OL01G00040
#> [5] OL01G00050
#> ... ...
#> [1899] OL03G05910
#> [1900] OL03G05920
#> [1901] OL03G05930
#> [1902] OL03G05940
#> [1903] OL03G05950
#> -------
#> seqinfo: 6 sequences from an unspecified genome; no seqlengths
#>
#> $OspRCC809
#> GRanges object with 1433 ranges and 4 metadata columns:
#> seqnames ranges strand | type ID
#> <Rle> <IRanges> <Rle> | <factor> <character>
#> [1] chr_1 321-1142 - | gene ORCC809_01G00010
#> [2] chr_1 1463-2089 + | gene ORCC809_01G00020
#> [3] chr_1 2162-3370 - | gene ORCC809_01G00030
#> [4] chr_1 3774-4424 - | gene ORCC809_01G00040
#> [5] chr_1 4693-9924 - | gene ORCC809_01G00050
#> ... ... ... ... . ... ...
#> [1429] chr_3 504915-506198 - | gene ORCC809_03G02980
#> [1430] chr_3 506377-507510 + | gene ORCC809_03G02990
#> [1431] chr_3 507856-511323 + | gene ORCC809_03G03000
#> [1432] chr_3 511533-513155 - | gene ORCC809_03G03010
#> [1433] chr_3 513841-514707 + | gene ORCC809_03G03020
#> Name gene_id
#> <character> <character>
#> [1] ORCC809_01G00010 ORCC809_01G00010
#> [2] ORCC809_01G00020 ORCC809_01G00020
#> [3] ORCC809_01G00030 ORCC809_01G00030
#> [4] ORCC809_01G00040 ORCC809_01G00040
#> [5] ORCC809_01G00050 ORCC809_01G00050
#> ... ... ...
#> [1429] ORCC809_03G02980 ORCC809_03G02980
#> [1430] ORCC809_03G02990 ORCC809_03G02990
#> [1431] ORCC809_03G03000 ORCC809_03G03000
#> [1432] ORCC809_03G03010 ORCC809_03G03010
#> [1433] ORCC809_03G03020 ORCC809_03G03020
#> -------
#> seqinfo: 6 sequences from an unspecified genome; no seqlengths
To detect synteny and infer synteny networks, syntenet requires two objects as input:
AAStringSet
objects containing the translated sequences
of primary transcripts for each species.GRangesList
or CompressedGRangesList
object containing
the coordinates for the genes in seq.If you have whole-genome protein sequences in FASTA files, store all FASTA
files in the same directory and use the function fasta2AAStringSetlist()
to
read all FASTA files into a list of AAStringSet
objects.
Likewise, if you have gene annotation in GFF/GFF3/GTF files,
store all files in the same directory and use the function gff2GRangesList()
to read all GFF/GFF3/GTF files into a GRangesList object
.
For a demonstration, we will read example FASTA and GFF3 files stored in
subdirectories named sequences/ and annotation/, which are located
in the extdata/
directory of this package.
AAStringSet
objectsHere is how you can use fasta2AAStringSetlist()
to read FASTA files
in a directory as a list of AAStringSet
objects.
# Path to directory containing FASTA files
fasta_dir <- system.file("extdata", "sequences", package = "syntenet")
fasta_dir
#> [1] "/tmp/RtmpfzAix8/Rinst2b1d35724aa553/syntenet/extdata/sequences"
dir(fasta_dir) # see the contents of the directory
#> [1] "Olucimarinus.fa.gz" "OspRCC809.fa.gz"
# Read all FASTA files in `fasta_dir`
aastringsetlist <- fasta2AAStringSetlist(fasta_dir)
aastringsetlist
#> $Olucimarinus
#> AAStringSet object of length 100:
#> width seq names
#> [1] 911 MTTMADERASIARVSVVKYGAI...DVQLYTYPGSTNDPNFLLKLA* OL01G00010
#> [2] 789 MGGRRCFCSRSSPVGVGAPAPA...FPPQCGADIEAGSEPPPDKCG* OL01G00020
#> [3] 618 MTRAKDAIVVDDGNDDDDDDDD...DRDASASLALALAFSSEESVV* OL01G00030
#> [4] 547 MPTKAQCWVVSYARVRDGASRS...VTGSVSARASIFGEQASFRKA* OL01G00040
#> [5] 319 MFTASHTTSKVTLRARVATQPR...LHNGMALWRETTPKDSLIPAL* OL01G00050
#> ... ... ...
#> [96] 476 MVPARNFLDGANAREVELDRVV...VMRKLREPDSVARLAGQTGVR* OL01G00960
#> [97] 771 MARHRGTRGGWNATTTEGGDGR...SIPDDGFDESSSVSASTIDGF* OL01G00970
#> [98] 494 MDSEFWGCVIPAGRAVRVEVAT...FIKSRKDLFTIDGAYVRLVKK* OL01G00980
#> [99] 264 VRAIVGATTRIQTRAPPRANHR...DWSFISDEFQDDASDSEVIDR* OL01G00990
#> [100] 565 MQLDAFRKATVKGVATRVGGAD...QLADLLRKNMGVPAKFIDAQN* OL01G01000
#>
#> $OspRCC809
#> AAStringSet object of length 100:
#> width seq names
#> [1] 274 MASTTGSAARRVFVDVEKTVNG...WDVLSLGQGSLSGESSSSDEE* ORCC809_01G00010
#> [2] 175 MDQMRAANAQRSYLLFFVLFFL...SSRRLLGRLDSEHTDLHPSWR* ORCC809_01G00020
#> [3] 403 MTAPRVRASRRATATAAATVTA...ALTERDLRYMEPKATIEEWMG* ORCC809_01G00030
#> [4] 217 MTIDADGDDTLAPHAPAHGEVS...SLIRLRGVEKTPTVDPPPPPP* ORCC809_01G00040
#> [5] 1691 RIEADEKSLLVFGKESPVRTAC...SVRMGNNVVTSRYASSESEEDV ORCC809_01G00050
#> ... ... ...
#> [96] 357 MSRGLADNWDDAEGYYCARIGE...TVNEALQHPFIVERIRTTAPN* ORCC809_01G00960
#> [97] 164 MAMDSFRSAPRSRRRVEATSRE...SKPVKPVREPVRMVEASTGAH* ORCC809_01G00970
#> [98] 85 MPEGTVFIGNIPYDATESSLTE...NLNAREYNGRQLRVDHAETMKG ORCC809_01G00980
#> [99] 229 MKGGGGASGAAASANGNGAVGG...PDQRAQVEYLRQLAAQQGMVR* ORCC809_01G00990
#> [100] 103 RKAGGERWEDSSLAEWPENDFR...EMAGKFIGNRPVKLRKSAWNER ORCC809_01G01000
And that’s it! Now you have a list of AAStringSet
objects.
GRangesList
objectHere is how you can use gff2GRangesList()
to read GFF/GFF3/GTF files
in a directory as a GRangesList
object.
# Path to directory containing FASTA files
gff_dir <- system.file("extdata", "annotation", package = "syntenet")
gff_dir
#> [1] "/tmp/RtmpfzAix8/Rinst2b1d35724aa553/syntenet/extdata/annotation"
dir(gff_dir) # see the contents of the directory
#> [1] "Olucimarinus.gff3.gz" "OspRCC809.gff3.gz"
# Read all FASTA files in `fasta_dir`
grangeslist <- gff2GRangesList(gff_dir)
grangeslist
#> GRangesList object of length 2:
#> $Olucimarinus
#> GRanges object with 100 ranges and 7 metadata columns:
#> seqnames ranges strand | source type score
#> <Rle> <IRanges> <Rle> | <factor> <factor> <numeric>
#> [1] Chr_1 939-3671 - | rtracklayer gene NA
#> [2] Chr_1 3907-6927 + | rtracklayer gene NA
#> [3] Chr_1 7085-9160 + | rtracklayer gene NA
#> [4] Chr_1 9830-11480 + | rtracklayer gene NA
#> [5] Chr_1 11467-12599 - | rtracklayer gene NA
#> ... ... ... ... . ... ... ...
#> [96] Chr_1 170975-172402 + | rtracklayer gene NA
#> [97] Chr_1 172445-174757 - | rtracklayer gene NA
#> [98] Chr_1 175358-176839 + | rtracklayer gene NA
#> [99] Chr_1 176901-177692 - | rtracklayer gene NA
#> [100] Chr_1 177742-179436 - | rtracklayer gene NA
#> phase ID Name gene_id
#> <integer> <character> <character> <character>
#> [1] <NA> OL01G00010 OL01G00010 OL01G00010
#> [2] <NA> OL01G00020 OL01G00020 OL01G00020
#> [3] <NA> OL01G00030 OL01G00030 OL01G00030
#> [4] <NA> OL01G00040 OL01G00040 OL01G00040
#> [5] <NA> OL01G00050 OL01G00050 OL01G00050
#> ... ... ... ... ...
#> [96] <NA> OL01G00960 OL01G00960 OL01G00960
#> [97] <NA> OL01G00970 OL01G00970 OL01G00970
#> [98] <NA> OL01G00980 OL01G00980 OL01G00980
#> [99] <NA> OL01G00990 OL01G00990 OL01G00990
#> [100] <NA> OL01G01000 OL01G01000 OL01G01000
#> -------
#> seqinfo: 2 sequences from an unspecified genome; no seqlengths
#>
#> $OspRCC809
#> GRanges object with 100 ranges and 7 metadata columns:
#> seqnames ranges strand | source type score
#> <Rle> <IRanges> <Rle> | <factor> <factor> <numeric>
#> [1] chr_1 321-1142 - | rtracklayer gene NA
#> [2] chr_1 1463-2089 + | rtracklayer gene NA
#> [3] chr_1 2162-3370 - | rtracklayer gene NA
#> [4] chr_1 3774-4424 - | rtracklayer gene NA
#> [5] chr_1 4693-9924 - | rtracklayer gene NA
#> ... ... ... ... . ... ... ...
#> [96] chr_1 165459-166529 - | rtracklayer gene NA
#> [97] chr_1 166654-167213 - | rtracklayer gene NA
#> [98] chr_1 167296-167550 + | rtracklayer gene NA
#> [99] chr_1 167542-168228 + | rtracklayer gene NA
#> [100] chr_1 168639-168947 - | rtracklayer gene NA
#> phase ID Name gene_id
#> <integer> <character> <character> <character>
#> [1] <NA> ORCC809_01G00010 ORCC809_01G00010 ORCC809_01G00010
#> [2] <NA> ORCC809_01G00020 ORCC809_01G00020 ORCC809_01G00020
#> [3] <NA> ORCC809_01G00030 ORCC809_01G00030 ORCC809_01G00030
#> [4] <NA> ORCC809_01G00040 ORCC809_01G00040 ORCC809_01G00040
#> [5] <NA> ORCC809_01G00050 ORCC809_01G00050 ORCC809_01G00050
#> ... ... ... ... ...
#> [96] <NA> ORCC809_01G00960 ORCC809_01G00960 ORCC809_01G00960
#> [97] <NA> ORCC809_01G00970 ORCC809_01G00970 ORCC809_01G00970
#> [98] <NA> ORCC809_01G00980 ORCC809_01G00980 ORCC809_01G00980
#> [99] <NA> ORCC809_01G00990 ORCC809_01G00990 ORCC809_01G00990
#> [100] <NA> ORCC809_01G01000 ORCC809_01G01000 ORCC809_01G01000
#> -------
#> seqinfo: 2 sequences from an unspecified genome; no seqlengths
And now you have a GRangesList
object.
The first part of the pipeline consists in processing the data to make it
match a standard structure. However, before processing the data for synteny
detection, you must use the function check_input()
to check if your data can
enter the pipeline. This function checks the input data for 3
required conditions:
Names of seq list (i.e., names(seq)
) match
the names of annotation GRangesList
/CompressedGRangesList
(i.e., names(annotation)
)
For each species (list elements), the number of sequences in seq is not greater than the number of genes in annotation. This is a way to ensure users do not input the translated sequences for multiple isoforms of the same gene (generated by alternative splicing). Ideally, the number of sequences in seq should be equal to the number of genes in annotation, but this may not always stand true because of non-protein-coding genes.
For each species, sequence names (i.e., names(seq[[x]])
,
equivalent to FASTA headers) match gene names in annotation
.
Let’s check if the example data sets satisfy these 3 criteria:
check_input(proteomes, annotation)
#> [1] TRUE
As you can see, the data passed the checks. Now, let’s process them
with the function process_input()
.
This function processes the input sequences and annotation to:
Remove whitespace and anything after it in sequence names
(i.e., names(seq[[x]])
, which is equivalent to FASTA headers), if
there is any.
Remove period followed by number at the end of sequence names, which typically indicates different isoforms of the same gene (e.g., Arabidopsis thaliana’s transcript AT1G01010.1, which belongs to gene AT1G01010).
Add a unique species identifier to sequence names. The species identifier consists of the first 3-5 strings of the element name. For instance, if the first element of the seq list is named “Athaliana”, each sequence in it will have an identifier “Atha_” added to the beginning of each gene name (e.g., Atha_AT1G01010).
If sequences have an asterisk (*) representing stop codon, remove it.
Add a unique species identifier (same as above) to
gene and chromosome names of each element of the annotation
GRangesList
/CompressedGRangesList
.
Filter each element of the annotation
GRangesList
/CompressedGRangesList
to keep only seqnames,
ranges, and gene ID.
Let’s process our input data:
pdata <- process_input(proteomes, annotation)
# Looking at the processed data
pdata$seq
#> $Olucimarinus
#> AAStringSet object of length 1901:
#> width seq names
#> [1] 910 MTTMADERASIARVSVVKYGAI...DVQLYTYPGSTNDPNFLLKLA Olu_OL01G00010
#> [2] 788 MGGRRCFCSRSSPVGVGAPAPA...FPPQCGADIEAGSEPPPDKCG Olu_OL01G00020
#> [3] 617 MTRAKDAIVVDDGNDDDDDDDD...DRDASASLALALAFSSEESVV Olu_OL01G00030
#> [4] 546 MPTKAQCWVVSYARVRDGASRS...VTGSVSARASIFGEQASFRKA Olu_OL01G00040
#> [5] 318 MFTASHTTSKVTLRARVATQPR...LHNGMALWRETTPKDSLIPAL Olu_OL01G00050
#> ... ... ...
#> [1897] 105 MAANDGETKLPEDGWIQPCFAC...LRAIVDQVGGEHLKGSLMPIE Olu_OL03G05910
#> [1898] 69 RMGIVKLATDGSVWVHSPIELD...AQQWKDAYPGATLYACPGLKS Olu_OL03G05920
#> [1899] 679 MDDAHDARWATTSARDGERARA...ARSVGPSASDKILEALFPVAD Olu_OL03G05930
#> [1900] 178 MRAVRERSKANLAARVKEEATR...LELERTRELFARARVRAYECI Olu_OL03G05940
#> [1901] 82 MFVREARRAIPRFIKDPPQAFH...QESGDVRSVEGEVCGAVLVDE Olu_OL03G05950
#>
#> $OspRCC809
#> AAStringSet object of length 1433:
#> width seq names
#> [1] 273 MASTTGSAARRVFVDVEKTVNG...WDVLSLGQGSLSGESSSSDEE Osp_ORCC809_01G00010
#> [2] 174 MDQMRAANAQRSYLLFFVLFFL...SSRRLLGRLDSEHTDLHPSWR Osp_ORCC809_01G00020
#> [3] 402 MTAPRVRASRRATATAAATVTA...ALTERDLRYMEPKATIEEWMG Osp_ORCC809_01G00030
#> [4] 216 MTIDADGDDTLAPHAPAHGEVS...SLIRLRGVEKTPTVDPPPPPP Osp_ORCC809_01G00040
#> [5] 1690 RIEADEKSLLVFGKESPVRTAC...SVRMGNNVVTSRYASSESEED Osp_ORCC809_01G00050
#> ... ... ...
#> [1429] 427 MVDANATTQTFVLEAEQELRVE...GDLPSNVLLVGNLKWLGEDGK Osp_ORCC809_03G02980
#> [1430] 377 MSVPRTTLRRIPLGNARDVLVT...KETLKAIDAVHAQCRDPCIAT Osp_ORCC809_03G02990
#> [1431] 1155 MRATSAPSIVSFVARVACLFVA...ACAFGTSLASFVVERARRLEN Osp_ORCC809_03G03000
#> [1432] 540 MAITVFLTDHGRRASALTFLVV...PGFGVGAVKFMLAPEMVKSLA Osp_ORCC809_03G03010
#> [1433] 288 MSLSSLRSFSRSISSAPGGRSC...EEPEEPEPEEPEPEEPEEPEP Osp_ORCC809_03G03020
pdata$annotation
#> $Olucimarinus
#> GRanges object with 1903 ranges and 1 metadata column:
#> seqnames ranges strand | gene
#> <Rle> <IRanges> <Rle> | <character>
#> [1] Olu_Chr_1 939-3671 * | Olu_OL01G00010
#> [2] Olu_Chr_1 3907-6927 * | Olu_OL01G00020
#> [3] Olu_Chr_1 7085-9160 * | Olu_OL01G00030
#> [4] Olu_Chr_1 9830-11480 * | Olu_OL01G00040
#> [5] Olu_Chr_1 11467-12599 * | Olu_OL01G00050
#> ... ... ... ... . ...
#> [1899] Olu_Chr_3 977435-977752 * | Olu_OL03G05910
#> [1900] Olu_Chr_3 978702-978911 * | Olu_OL03G05920
#> [1901] Olu_Chr_3 979281-981320 * | Olu_OL03G05930
#> [1902] Olu_Chr_3 981778-982314 * | Olu_OL03G05940
#> [1903] Olu_Chr_3 982498-982746 * | Olu_OL03G05950
#> -------
#> seqinfo: 3 sequences from an unspecified genome; no seqlengths
#>
#> $OspRCC809
#> GRanges object with 1433 ranges and 1 metadata column:
#> seqnames ranges strand | gene
#> <Rle> <IRanges> <Rle> | <character>
#> [1] Osp_chr_1 321-1142 * | Osp_ORCC809_01G00010
#> [2] Osp_chr_1 1463-2089 * | Osp_ORCC809_01G00020
#> [3] Osp_chr_1 2162-3370 * | Osp_ORCC809_01G00030
#> [4] Osp_chr_1 3774-4424 * | Osp_ORCC809_01G00040
#> [5] Osp_chr_1 4693-9924 * | Osp_ORCC809_01G00050
#> ... ... ... ... . ...
#> [1429] Osp_chr_3 504915-506198 * | Osp_ORCC809_03G02980
#> [1430] Osp_chr_3 506377-507510 * | Osp_ORCC809_03G02990
#> [1431] Osp_chr_3 507856-511323 * | Osp_ORCC809_03G03000
#> [1432] Osp_chr_3 511533-513155 * | Osp_ORCC809_03G03010
#> [1433] Osp_chr_3 513841-514707 * | Osp_ORCC809_03G03020
#> -------
#> seqinfo: 3 sequences from an unspecified genome; no seqlengths
Now that we have our processed data, we can infer the synteny network.
To detect synteny, we need the tabular output from BLASTp (Altschul et al. 1997)
or similar programs. To get that, you can use the function run_diamond()
,
which runs DIAMOND (Buchfink, Reuter, and Drost 2021) from the R session and
automatically parses its output to a list of data frames.1 Alternative: if you want to use a different program for similarity
searches, you can run it on the command line, save the output in tabular
format, and read the tabular output as a data frame (e.g., with the base
R function read.table
).
Let’s demonstrate how run_diamond()
works.
Needless to say, you need to have DIAMOND installed in your machine
and in your PATH to run this function. To check if you have DIAMOND installed,
use the function diamond_is_installed()
.2 Note: in the code chunk below, the if statement is not required.
We just added it to make sure that the function run_diamond()
is only
executed if DIAMOND is installed, to avoid problems when building this
vignette in machines that do not have DIAMOND installed. If you want to
reproduce the code in this vignette and do not have DIAMOND installed,
you can use the example output of run_diamond()
stored in the blast_list
object (loaded with data(blast_list)
).
data(blast_list)
if(diamond_is_installed()) {
blast_list <- run_diamond(seq = pdata$seq)
}
The output of run_diamond()
is a list of data frames containing the tabular
output of all-vs-all DIAMOND searches. Let’s take a look at it.
# List names
names(blast_list)
#> [1] "Olucimarinus_Olucimarinus" "Olucimarinus_OspRCC809"
#> [3] "OspRCC809_Olucimarinus" "OspRCC809_OspRCC809"
# Inspect first data frame
head(blast_list$Olucimarinus_Olucimarinus)
#> query db perc_identity length mismatches gap_open qstart
#> 1 Olu_OL01G00010 Olu_OL01G00010 100 910 0 0 1
#> 3 Olu_OL01G00020 Olu_OL01G00020 100 788 0 0 1
#> 5 Olu_OL01G00030 Olu_OL01G00030 100 617 0 0 1
#> 6 Olu_OL01G00040 Olu_OL01G00040 100 546 0 0 1
#> 7 Olu_OL01G00050 Olu_OL01G00050 100 318 0 0 1
#> 8 Olu_OL01G00060 Olu_OL01G00060 100 361 0 0 1
#> qend tstart tend evalue bitscore
#> 1 910 1 910 0.00e+00 1623
#> 3 788 1 788 0.00e+00 1363
#> 5 617 1 617 0.00e+00 1046
#> 6 546 1 546 0.00e+00 1035
#> 7 318 1 318 2.98e-219 595
#> 8 361 1 361 1.72e-267 721
Now, we can use this list of DIAMOND data frames to detect synteny. Here, we reimplemented the popular MCScanX algorithm (Wang et al. 2012), originally written in C++, using the Rcpp (Eddelbuettel and François 2011) framework for R and C++ integration. This means that syntenet comes with a native version of the MCScanX algorithm, so you can run MCScanX in R without having to install it yourself. Amazing, huh?
To detect synteny and infer the synteny network, use the
function infer_syntenet()
. The output is a network represented as a
so-called edge list (i.e., a 2-column data frame with node 1 and node 2
in columns 1 and 2, respectively).
# Infer synteny network
net <- infer_syntenet(blast_list, pdata$annotation)
# Look at the output
head(net)
#> Anchor1 Anchor2
#> 1 Olu_OL01G00100 Osp_ORCC809_01G06480
#> 2 Olu_OL01G00130 Osp_ORCC809_01G06440
#> 3 Olu_OL01G00150 Osp_ORCC809_01G06420
#> 4 Olu_OL01G00160 Osp_ORCC809_01G06410
#> 5 Olu_OL01G00170 Osp_ORCC809_01G06400
#> 6 Olu_OL01G00180 Osp_ORCC809_01G06390
In a synteny network, each row of the edge list represents an anchor pair. In the edge list above, for example, the genes Olu_OL01G00100 and Osp_ORCC809_01G06480 are in the same syntenic block.
After inferring the synteny network, the first thing you would want to do is cluster your network and identify which phylogenetic groups are contained in each cluster. This is what we call phylogenomic profiling. This way, you can identify clade-specific clusters, and highly conserved clusters, for instance. Here, we will use an example network of BUSCO genes for 25 eudicot species, which was obtained from Zhao and Schranz (2019).
To obtain the phylogenomic profiles, you first need to cluster your network.
This can be done with cluster_network()
.3 Friendly tip: syntenet uses the Infomap
algorithm to cluster networks, which has been shown to have the best performance
(Zhao and Schranz 2019). However, you can use any other network clustering
method implemented in the cluster_ family of functions from the
igraph package by passing the function directly
to the clust_function parameter (see ?cluster_network
for details).
Importantly, the Infomap algorithm (default clustering method)
assigns each gene to a single cluster.
However, for some cases (e.g., detection of tandem arrays),
you may want to use an algorithm that allows community overlap
(i.e., a gene can be part of more than one cluster).
If this is your case, we recommend the clique percolation algorithm,
which is implemented in the R package
CliquePercolation (Lange 2021).
# Load example data and take a look at it
data(network)
head(network)
#> node1 node2
#> 1 cca_23646 Lang_109327134
#> 2 cca_23646 Lang_109328075
#> 3 cca_23646 Mnot_21394516
#> 4 cca_23646 Zjuj_107413994
#> 5 cca_23646 adu_Aradu.8SN53
#> 6 cca_23646 car_14082.1
# Cluster network
clusters <- cluster_network(network)
head(clusters)
#> Gene Cluster
#> 1 cca_23646 1
#> 2 cca_23668 2
#> 3 cca_32926 3
#> 4 cca_26186 4
#> 5 cca_24381 5
#> 6 cca_24396 6
Now that each gene has been assigned to a cluster, we can identify the phylogenomic profiles of each cluster. This function returns a matrix of phylogenomic profiles, with clusters in rows and species in columns.
# Phylogenomic profiling
profiles <- phylogenomic_profile(clusters)
# Exploring the output
head(profiles)
#>
#> Lang Mnot Zjuj adu car cca fve gma hlu jcu lja lus mdo mes mtr pbr pmu ppe
#> 1 2 1 1 1 1 1 1 2 0 0 1 2 2 1 1 3 1 1
#> 2 1 1 1 1 1 1 1 1 0 0 0 1 1 1 1 1 1 1
#> 3 1 1 1 0 1 1 1 1 0 0 1 2 1 1 1 1 1 1
#> 4 2 1 1 0 1 1 1 2 0 1 1 2 0 2 1 1 1 1
#> 5 0 1 1 1 1 1 1 2 0 1 0 0 1 1 1 1 1 1
#> 6 2 1 1 2 1 2 1 3 0 1 0 2 2 1 2 2 1 1
#>
#> ptr pvu rco roc tpr van vra
#> 1 1 1 1 1 1 1 1
#> 2 1 1 0 0 1 1 1
#> 3 1 1 1 1 1 0 0
#> 4 0 1 1 0 1 1 0
#> 5 1 1 1 1 1 1 2
#> 6 2 1 1 1 1 0 1
As a plot is worth a thousand words (or numbers), you can use the function
plot_profiles()
to visualize the phylogenomic profiles as a heatmap with
species in rows and synteny network clusters in columns. The heatmap
generated by this function is highly customizable by users. Some
important remarks are:
You can add a legend for species metadata (e.g., taxonomic information) by passing a 2-column data frame to the parameter species_annotation.
Columns (network clusters) are grouped with Ward’s clustering on a matrix
of distances. The method to compute the distance matrix can be defined by users
in parameters dist_function and dist_params. By default, it uses
the function stats::dist()
with parameter method = "euclidean"
. Likewise,
the function to cluster the distance matrix and additional parameters
can be specified in clust_function and clust_params. By default,
it uses stats::hclust
with parameter method = "ward.D"
.
The order in which species are displayed can be defined by users in parameter cluster_species. We strongly recommend passing a vector of species order that matches the species tree, so that patterns can be explored in a phylogenetic context. Importantly, if the character vector is named, vector names will be used as species names in the plot. This a nice way to replace species abbreviations with their full names.
Here, to briefly demonstrate how to play with the parameters we just mentioned in the 3 remarks above, we will:
Create a vector with the order in which we want species to be displayed, with longer species names in vector names.
Create a metadata data frame containing the family of each species.
Use the function dsvdis()
from the labdsv package
to calculate Ruzicka distances when clustering columns.
# 1) Create a named vector of custom species order to plot
species_order <- setNames(
# vector elements
c(
"vra", "van", "pvu", "gma", "cca", "tpr", "mtr", "adu", "lja",
"Lang", "car", "pmu", "ppe", "pbr", "mdo", "roc", "fve",
"Mnot", "Zjuj", "jcu", "mes", "rco", "lus", "ptr"
),
# vector names
c(
"V. radiata", "V. angularis", "P. vulgaris", "G. max", "C. cajan",
"T. pratense", "M. truncatula", "A. duranensis", "L. japonicus",
"L. angustifolius", "C. arietinum", "P. mume", "P. persica",
"P. bretschneideri", "M. domestica", "R. occidentalis",
"F. vesca", "M. notabilis", "Z. jujuba",
"J. curcas", "M. esculenta", "R. communis",
"L. usitatissimum", "P. trichocarpa"
)
)
species_order
#> V. radiata V. angularis P. vulgaris G. max
#> "vra" "van" "pvu" "gma"
#> C. cajan T. pratense M. truncatula A. duranensis
#> "cca" "tpr" "mtr" "adu"
#> L. japonicus L. angustifolius C. arietinum P. mume
#> "lja" "Lang" "car" "pmu"
#> P. persica P. bretschneideri M. domestica R. occidentalis
#> "ppe" "pbr" "mdo" "roc"
#> F. vesca M. notabilis Z. jujuba J. curcas
#> "fve" "Mnot" "Zjuj" "jcu"
#> M. esculenta R. communis L. usitatissimum P. trichocarpa
#> "mes" "rco" "lus" "ptr"
# 2) Create a metadata data frame containing the family of each species
species_annotation <- data.frame(
Species = species_order,
Family = c(
rep("Fabaceae", 11), rep("Rosaceae", 6),
"Moraceae", "Ramnaceae", rep("Euphorbiaceae", 3),
"Linaceae", "Salicaceae"
)
)
head(species_annotation)
#> Species Family
#> V. radiata vra Fabaceae
#> V. angularis van Fabaceae
#> P. vulgaris pvu Fabaceae
#> G. max gma Fabaceae
#> C. cajan cca Fabaceae
#> T. pratense tpr Fabaceae
# 3) Plot phylogenomic profiles, but using Ruzicka distances
plot_profiles(
profiles,
species_annotation,
cluster_species = species_order,
dist_function = labdsv::dsvdis,
dist_params = list(index = "ruzicka")
)
The heatmap is a nice way to observe patterns. For instance, you can see some Rosaceae-specific clusters, Fabaceae-specific clusters, and highly conserved ones as well.
If you want to explore in more details the group-specific clusters,
you can use the function find_GS_clusters()
. For that, you only need to
input the profiles matrix and a data frame of species annotation (i.e.,
species groups).
# Find group-specific clusters
gs_clusters <- find_GS_clusters(profiles, species_annotation)
#> Could not find annotation for species:
#> hlu
head(gs_clusters)
#> Group Percentage Cluster
#> 2 Fabaceae 90.91 1156
#> 21 Fabaceae 81.82 1170
#> 5 Ramnaceae 100.00 1279
#> 22 Fabaceae 90.91 1305
#> 23 Fabaceae 81.82 1309
#> 24 Fabaceae 90.91 1310
# How many family-specific clusters are there?
nrow(gs_clusters)
#> [1] 394
As you can see, there are 394 family-specific clusters in the network. Let’s plot a heatmap of group-specific clusters only.
# Filter profiles matrix to only include group-specific clusters
idx <- rownames(profiles) %in% gs_clusters$Cluster
p_gs <- profiles[idx, ]
# Plot heatmap
plot_profiles(
p_gs, species_annotation,
cluster_species = species_order,
cluster_columns = TRUE
)
Pretty cool, huh? You can also visualize clusters as a network plot with
the function plot_network()
. For example, let’s visualize the
group-specific clusters.
# 1) Visualize a network of first 5 GS-clusters
id <- gs_clusters$Cluster[1:5]
plot_network(network, clusters, cluster_id = id)
# 2) Coloring nodes by family
genes <- unique(c(network$node1, network$node2))
gene_df <- data.frame(
Gene = genes,
Species = unlist(lapply(strsplit(genes, "_"), head, 1))
)
gene_df <- merge(gene_df, species_annotation)[, c("Gene", "Family")]
head(gene_df)
#> Gene Family
#> 1 Lang_109343937 Fabaceae
#> 2 Lang_109342839 Fabaceae
#> 3 Lang_109356231 Fabaceae
#> 4 Lang_109349826 Fabaceae
#> 5 Lang_109342812 Fabaceae
#> 6 Lang_109347788 Fabaceae
plot_network(network, clusters, cluster_id = id, color_by = gene_df)
# 3) Interactive visualization (zoom out and in to explore it)
plot_network(
network, clusters, cluster_id = id,
interactive = TRUE, dim_interactive = c(500, 300)
)
Finally, you can use the information on presence/absence of clusters in each species to reconstruct a microsynteny-based phylogeny.
To do that, you first need to binarize the profiles matrix (0s and 1s
representing absence and presence, respectively) and transpose it. This can
be done with binarize_and_tranpose()
.
bt_mat <- binarize_and_transpose(profiles)
# Looking at the first 5 rows and 5 columns of the matrix
bt_mat[1:5, 1:5]
#>
#> 1 2 3 4 5
#> Lang 1 1 1 1 0
#> Mnot 1 1 1 1 1
#> Zjuj 1 1 1 1 1
#> adu 1 1 0 0 1
#> car 1 1 1 1 1
Now, you can use this transposed binary matrix as input to
IQTREE2 (Minh et al. 2020) to infer a phylogeny. To do so, you can use the function
infer_microsynteny_phylogeny()
, which allows you to run IQTREE2 from
an R session.4 Alternative: if you want to use a different program rather
than IQTREE2, you can use the function profiles2phylip()
to write the
transposed binary matrix to a PHYLIP file and run your favorite program
on the command line. However, when inferring a phylogeny from phylogenomic
profiles, you need to make sure that the program you are using supports
substitution models for binary data. In IQTREE2, for instance, using
binary, morphological models requires passing parameters -st MORPH
. You need to have IQTREE2 installed in your machine and in
your PATH to run this function. You can check if you have IQTREE2 installed
with iqtree_is_installed()
.
For the sake of demonstration, we will infer a phylogeny with
infer_microsynteny_phylogeny()
using the profiles for BUSCO genes for
six legume species only. We will also remove non-variable sites (i.e.,
clusters that are present in all species or absent in all species).
However, we’re only using this filtered data set for speed issues.
For real-life applications, the best thing to do is to
include phylogenomic profiles for all genes (not only BUSCO genes).
# Leave only 6 legume species and P. mume as an outgroup for testing purposes
included <- c("gma", "pvu", "vra", "van", "cca", "pmu")
bt_mat <- bt_mat[rownames(bt_mat) %in% included, ]
# Remove non-variable sites
bt_mat <- bt_mat[, colSums(bt_mat) != length(included)]
if(iqtree_is_installed()) {
phylo <- infer_microsynteny_phylogeny(bt_mat, outgroup = "pmu",
threads = 1)
}
The output of infer_microsynteny_phylogeny()
is a character vector with paths
to the output files from IQTREE2. Usually, you are interested in the file
ending in .treefile. This is the species tree in Newick format, and it can
be visualized with your favorite tree viewer. We strongly recommend using
the read.tree()
function from the Bioconductor package
treeio (Wang et al. 2020) to
read the tree, and visualizing it with the ggtree
Bioc package (Yu et al. 2017).
For example, let’s visualize a microsynteny-based phylogeny for 123 angiosperm
species, whose phylogenomic profiles were obtained from Zhao et al. (2021).
data(angiosperm_phylogeny)
# Plotting the tree
library(ggtree)
ggtree(angiosperm_phylogeny) +
geom_tiplab(size = 3) +
xlim(0, 0.3)
If you have DIAMOND and/or IQTREE2 installed, but in a directory that is not in
your PATH, you can add this given directory to your PATH with the function
Sys.setenv()
.
For example, suppose your DIAMOND binary is in /home/username/bioinfo_tools
.
To add this directory to your PATH, you would run:
# Add example directory /home/username/bioinfo_tools to PATH
Sys.setenv(
PATH = paste(
Sys.getenv("PATH"), "/home/username/bioinfo_tools", sep = ":"
)
)
Note that your R PATH is not the same as your system’s PATH. Thus, even if you
add the directory /home/username/bioinfo_tools
to your system’s path (e.g.,
by editing your ~/.bashrc file if you are on Linux), you would still need to
update your R PATH.
This document was created under the following conditions:
sessionInfo()
#> R version 4.2.2 (2022-10-31)
#> Platform: x86_64-pc-linux-gnu (64-bit)
#> Running under: Ubuntu 20.04.5 LTS
#>
#> Matrix products: default
#> BLAS: /home/biocbuild/bbs-3.16-bioc/R/lib/libRblas.so
#> LAPACK: /home/biocbuild/bbs-3.16-bioc/R/lib/libRlapack.so
#>
#> locale:
#> [1] LC_CTYPE=en_US.UTF-8 LC_NUMERIC=C
#> [3] LC_TIME=en_GB LC_COLLATE=C
#> [5] LC_MONETARY=en_US.UTF-8 LC_MESSAGES=en_US.UTF-8
#> [7] LC_PAPER=en_US.UTF-8 LC_NAME=C
#> [9] LC_ADDRESS=C LC_TELEPHONE=C
#> [11] LC_MEASUREMENT=en_US.UTF-8 LC_IDENTIFICATION=C
#>
#> attached base packages:
#> [1] stats graphics grDevices utils datasets methods base
#>
#> other attached packages:
#> [1] ggtree_3.6.2 syntenet_1.0.4 BiocStyle_2.26.0
#>
#> loaded via a namespace (and not attached):
#> [1] nlme_3.1-162 bitops_1.0-7
#> [3] matrixStats_0.63.0 labdsv_2.0-1
#> [5] RColorBrewer_1.1-3 GenomeInfoDb_1.34.9
#> [7] tools_4.2.2 bslib_0.4.2
#> [9] utf8_1.2.3 R6_2.5.1
#> [11] DBI_1.1.3 lazyeval_0.2.2
#> [13] BiocGenerics_0.44.0 mgcv_1.8-41
#> [15] colorspace_2.1-0 withr_2.5.0
#> [17] tidyselect_1.2.0 compiler_4.2.2
#> [19] cli_3.6.0 Biobase_2.58.0
#> [21] intergraph_2.0-2 network_1.18.1
#> [23] DelayedArray_0.24.0 rtracklayer_1.58.0
#> [25] labeling_0.4.2 bookdown_0.32
#> [27] sass_0.4.5 scales_1.2.1
#> [29] yulab.utils_0.0.6 digest_0.6.31
#> [31] Rsamtools_2.14.0 rmarkdown_2.20
#> [33] XVector_0.38.0 pkgconfig_2.0.3
#> [35] htmltools_0.5.4 MatrixGenerics_1.10.0
#> [37] fastmap_1.1.0 highr_0.10
#> [39] htmlwidgets_1.6.1 rlang_1.0.6
#> [41] gridGraphics_0.5-1 jquerylib_0.1.4
#> [43] BiocIO_1.8.0 generics_0.1.3
#> [45] farver_2.1.1 jsonlite_1.8.4
#> [47] statnet.common_4.8.0 BiocParallel_1.32.5
#> [49] dplyr_1.1.0 RCurl_1.98-1.10
#> [51] magrittr_2.0.3 ggplotify_0.1.0
#> [53] ggnetwork_0.5.10 GenomeInfoDbData_1.2.9
#> [55] patchwork_1.1.2 Matrix_1.5-3
#> [57] Rcpp_1.0.10 munsell_0.5.0
#> [59] S4Vectors_0.36.1 fansi_1.0.4
#> [61] ape_5.6-2 lifecycle_1.0.3
#> [63] yaml_2.3.7 MASS_7.3-58.2
#> [65] SummarizedExperiment_1.28.0 zlibbioc_1.44.0
#> [67] Rtsne_0.16 grid_4.2.2
#> [69] parallel_4.2.2 crayon_1.5.2
#> [71] lattice_0.20-45 Biostrings_2.66.0
#> [73] splines_4.2.2 knitr_1.42
#> [75] pillar_1.8.1 igraph_1.3.5
#> [77] GenomicRanges_1.50.2 rjson_0.2.21
#> [79] codetools_0.2-19 stats4_4.2.2
#> [81] XML_3.99-0.13 glue_1.6.2
#> [83] evaluate_0.20 ggfun_0.0.9
#> [85] BiocManager_1.30.19 treeio_1.22.0
#> [87] vctrs_0.5.2 networkD3_0.4
#> [89] purrr_1.0.1 tidyr_1.3.0
#> [91] gtable_0.3.1 cachem_1.0.6
#> [93] ggplot2_3.4.0 xfun_0.37
#> [95] restfulr_0.0.15 tidytree_0.4.2
#> [97] coda_0.19-4 tibble_3.1.8
#> [99] pheatmap_1.0.12 aplot_0.1.9
#> [101] GenomicAlignments_1.34.0 IRanges_2.32.0
#> [103] cluster_2.1.4 ellipsis_0.3.2
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