The Experts below are selected from a list of 1911 Experts worldwide ranked by ideXlab platform

Ruiz M Rejon - One of the best experts on this subject based on the ideXlab platform.

Adam D. Leaché - One of the best experts on this subject based on the ideXlab platform.

  • characterization of a Pericentric Inversion in plateau fence lizards sceloporus tristichus evidence from chromosome scale genomes
    G3: Genes Genomes Genetics, 2021
    Co-Authors: Ana M Bedoya, Adam D. Leaché
    Abstract:

    Spiny lizards in the genus Sceloporus are a model system among squamate reptiles for studies of chromosomal evolution. While most pleurodont iguanians retain an ancestral karyotype formula of 2n = 36 chromosomes, Sceloporus exhibits substantial karyotype variation ranging from 2n =  22 to 46 chromosomes. We present two annotated chromosome-scale genome assemblies for the Plateau Fence Lizard (Sceloporus tristichus) to facilitate research on the role of Pericentric Inversion polymorphisms on adaptation and speciation. Based on previous karyotype work using conventional staining, the S. tristichus genome is characterized as 2n =  22 with six pairs of macrochromosomes and five pairs of microchromosomes and a Pericentric Inversion polymorphism on chromosome 7 that is geographically variable. We provide annotated, chromosome-scale genomes for two lizards located at opposite ends of a dynamic hybrid zone that are each fixed for different Inversion polymorphisms. The assembled genomes are 1.84-1.87 Gb (1.72 Gb for scaffolds mapping to chromosomes) with a scaffold N50 of 267.5 Mb. Functional annotation of the genomes resulted in ∼15K predicted gene models. Our assemblies confirmed the presence of a 4.62-Mb Pericentric Inversion on chromosome 7, which contains 62 annotated coding genes with known functions. In addition, we collected population genomics data using double digest RAD-sequencing for 44 S. tristichus to estimate population structure and phylogeny across the Colorado Plateau. These new genomic resources provide opportunities to perform genomic scans and investigate the formation and spread of Pericentric Inversions in a naturally occurring hybrid zone.

  • characterization of a large Pericentric Inversion in plateau fence lizards sceloporus tristichus evidence from chromosome scale genomes
    bioRxiv, 2020
    Co-Authors: Adam D. Leaché, Ana M Bedoya
    Abstract:

    Spiny lizards in the genus Sceloporus are a model system among squamate reptiles for studies of chromosomal evolution. While most pleurodont iguanians retain an ancestral karyotype formula of 2n=36 chromosomes, Sceloporus exhibits substantial kary- otype variation ranging from 2n=22 to 2n=46 chromosomes. In this study, we present two annotated chromosome-scale genome assemblies for the Plateau Fence Lizard (Sceloporus tristichus) in order to facilitate research on the role of Pericentric Inversion polymorphisms on adaptation and speciation. Based on previous karyotype work using conventional staining, the S. tristichus genome is characterized as 2n=22 with 6 pairs of macrochromosomes and 5 pairs of microchromosomes with a large Pericentric Inversion polymorphism on chromosome seven that is geographically variable. We provide annotated, chromosome-scale genomes for two lizards located at opposite ends of a dynamic hybrid zone that are each fixed for different Inversion polymorphisms. The assembled genomes are 1.84 to 1.87 Gb (1.72 Gb for scaffolds mapping to chromosomes) with a scaffold N50 of 267.5 Mb. Functional annotation of the genomes resulted in 65,417 annotated genes, 16,426 of which were deduced to have a function. We confirmed the presence of a 4.62 Mb Pericentric Inversion on chromosome seven, which contains 59 annotated coding genes with known functions. These new genomic resources provide opportunities to perform genomic scans and investigate the formation and spread of Pericentric Inversions in a naturally occurring hybrid zone. Key words: chromosome rearrangement, de novo assembly, hybrid zone, Pericentric Inversion, phrynosomatidae, Sceloporus, genome sequencing.

M A Garridoramos - One of the best experts on this subject based on the ideXlab platform.

Alojz Gregoric - One of the best experts on this subject based on the ideXlab platform.

  • subterminal deletion duplication event in an affected male due to maternal x chromosome Pericentric Inversion
    European Journal of Pediatrics, 2004
    Co-Authors: Nadja Kokaljvokac, Natasa Marcunvarda, Andreja Zagorac, Alenka Erjavecskerget, Boris Zagradisnik, Mirjana Todorovic, Alojz Gregoric
    Abstract:

    We report a 13-month-old male infant with an apparently normal karyotype, severe growth and developmental delay, ichthyosis, hypogonadism, limb shortness, hypoplasia of the corpus callosum and a round, flat face and thin upper lip as a consequence of a subtelomeric del/dup event of the X chromosome. The recombinant X chromosome (rec(X)), derived from crossing-over within the Inversion, was identified in a family, in which the mother is a carrier of Pericentric Inversion of one X chromosome and Pericentric Inversion of the heterochromatic region of chromosome 9. The inv(X) chromosome was also analysed in her sister and daughter. The rec(X) had a duplication of the segment Xq27.3→Xqter and deletion of the Xp22.31→Xpter and was interpreted as Xqter-Xq27.3::Xp22.31-Xqter. The rec (X) was characterised by FISH using a number of BAC probes. There are only three published reports of chromosome rearrangements resulting in a similar subtelomeric duplication of Xq in males. The proband’s phenotype corresponds to descriptions of contiguous gene syndromes due to deletion of the STS, SHOX, ARSE and KAL genes. Despite the loss of the ARSE gene there was no evidence of chondrodysplasia punctata. Additional conditions associated with duplication of the Xq28 segment, such as severe growth retardation and developmental delay, a peculiar head shape, atrophy of the cerebral hemispheres and hypoplasia of the cerebellum and corpus callosum, were observed. Conclusion:Fluorescent in situ hybridisation techniques using subtelomeric DNA probes are essential tools for detection of such complex submicroscopic chromosomal rearrangements as the dup/del event of the X chromosome described in our patient.

  • subterminal deletion duplication event in an affected male due to maternal x chromosome Pericentric Inversion
    European Journal of Pediatrics, 2004
    Co-Authors: Nadja Kokaljvokac, Natasa Marcunvarda, Andreja Zagorac, Alenka Erjavecskerget, Boris Zagradisnik, Mirjana Todorovic, Alojz Gregoric
    Abstract:

    We report a 13-month-old male infant with an apparently normal karyotype, severe growth and developmental delay, ichthyosis, hypogonadism, limb shortness, hypoplasia of the corpus callosum and a round, flat face and thin upper lip as a consequence of a subtelomeric del/dup event of the X chromosome. The recombinant X chromosome (rec(X)), derived from crossing-over within the Inversion, was identified in a family, in which the mother is a carrier of Pericentric Inversion of one X chromosome and Pericentric Inversion of the heterochromatic region of chromosome 9. The inv(X) chromosome was also analysed in her sister and daughter. The rec(X) had a duplication of the segment Xq27.3→Xqter and deletion of the Xp22.31→Xpter and was interpreted as Xqter-Xq27.3::Xp22.31-Xqter. The rec (X) was characterised by FISH using a number of BAC probes. There are only three published reports of chromosome rearrangements resulting in a similar subtelomeric duplication of Xq in males. The proband’s phenotype corresponds to descriptions of contiguous gene syndromes due to deletion of the STS, SHOX, ARSE and KAL genes. Despite the loss of the ARSE gene there was no evidence of chondrodysplasia punctata. Additional conditions associated with duplication of the Xq28 segment, such as severe growth retardation and developmental delay, a peculiar head shape, atrophy of the cerebral hemispheres and hypoplasia of the cerebellum and corpus callosum, were observed. Conclusion:Fluorescent in situ hybridisation techniques using subtelomeric DNA probes are essential tools for detection of such complex submicroscopic chromosomal rearrangements as the dup/del event of the X chromosome described in our patient.

Ana M Bedoya - One of the best experts on this subject based on the ideXlab platform.

  • characterization of a Pericentric Inversion in plateau fence lizards sceloporus tristichus evidence from chromosome scale genomes
    G3: Genes Genomes Genetics, 2021
    Co-Authors: Ana M Bedoya, Adam D. Leaché
    Abstract:

    Spiny lizards in the genus Sceloporus are a model system among squamate reptiles for studies of chromosomal evolution. While most pleurodont iguanians retain an ancestral karyotype formula of 2n = 36 chromosomes, Sceloporus exhibits substantial karyotype variation ranging from 2n =  22 to 46 chromosomes. We present two annotated chromosome-scale genome assemblies for the Plateau Fence Lizard (Sceloporus tristichus) to facilitate research on the role of Pericentric Inversion polymorphisms on adaptation and speciation. Based on previous karyotype work using conventional staining, the S. tristichus genome is characterized as 2n =  22 with six pairs of macrochromosomes and five pairs of microchromosomes and a Pericentric Inversion polymorphism on chromosome 7 that is geographically variable. We provide annotated, chromosome-scale genomes for two lizards located at opposite ends of a dynamic hybrid zone that are each fixed for different Inversion polymorphisms. The assembled genomes are 1.84-1.87 Gb (1.72 Gb for scaffolds mapping to chromosomes) with a scaffold N50 of 267.5 Mb. Functional annotation of the genomes resulted in ∼15K predicted gene models. Our assemblies confirmed the presence of a 4.62-Mb Pericentric Inversion on chromosome 7, which contains 62 annotated coding genes with known functions. In addition, we collected population genomics data using double digest RAD-sequencing for 44 S. tristichus to estimate population structure and phylogeny across the Colorado Plateau. These new genomic resources provide opportunities to perform genomic scans and investigate the formation and spread of Pericentric Inversions in a naturally occurring hybrid zone.

  • characterization of a large Pericentric Inversion in plateau fence lizards sceloporus tristichus evidence from chromosome scale genomes
    bioRxiv, 2020
    Co-Authors: Adam D. Leaché, Ana M Bedoya
    Abstract:

    Spiny lizards in the genus Sceloporus are a model system among squamate reptiles for studies of chromosomal evolution. While most pleurodont iguanians retain an ancestral karyotype formula of 2n=36 chromosomes, Sceloporus exhibits substantial kary- otype variation ranging from 2n=22 to 2n=46 chromosomes. In this study, we present two annotated chromosome-scale genome assemblies for the Plateau Fence Lizard (Sceloporus tristichus) in order to facilitate research on the role of Pericentric Inversion polymorphisms on adaptation and speciation. Based on previous karyotype work using conventional staining, the S. tristichus genome is characterized as 2n=22 with 6 pairs of macrochromosomes and 5 pairs of microchromosomes with a large Pericentric Inversion polymorphism on chromosome seven that is geographically variable. We provide annotated, chromosome-scale genomes for two lizards located at opposite ends of a dynamic hybrid zone that are each fixed for different Inversion polymorphisms. The assembled genomes are 1.84 to 1.87 Gb (1.72 Gb for scaffolds mapping to chromosomes) with a scaffold N50 of 267.5 Mb. Functional annotation of the genomes resulted in 65,417 annotated genes, 16,426 of which were deduced to have a function. We confirmed the presence of a 4.62 Mb Pericentric Inversion on chromosome seven, which contains 59 annotated coding genes with known functions. These new genomic resources provide opportunities to perform genomic scans and investigate the formation and spread of Pericentric Inversions in a naturally occurring hybrid zone. Key words: chromosome rearrangement, de novo assembly, hybrid zone, Pericentric Inversion, phrynosomatidae, Sceloporus, genome sequencing.