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Molecular Cytogenetics and Genomics Laboratory

Research - Molecular Cytogenetics and Genomics Laboratory


Genome Structure and Evolution

We are studying the structure and evolution of genomes using both traditional approaches, such as karyotyping, fluorescent in situ hybridization (FISH), construction of contigs of overlapping of BACs, development of gene maps, and Sanger sequencing, and combine them with the latest technological advancements, including whole genome tiling arrays and next-generation 454 sequencing. We previously developed a physical map of the equine genome that was critical during the annotation of the equine genome sequence assembly. Our studies compare chromosome structure and gene content between and within species, and also examine various rearrangements that affect the phenotype of individuals and cause major physical abnormalities, such as XY sex reversal. Recently, we have characterized the equine Pseudoautosomal Region (PAR) and created a physical ordered map of the male-specific region of the Y chromosome (MSY) that we are using to sequence and assemble the MSY. The evolutionary dynamics of this region are very different from that of autosomes and the X. We are currently identifying MSY genes that are important for male fertility, sex development, and other traits.

Genetic Basis of Equine Disease

In parallel with our investigation of the equine genome, we are also leveraging the resources that we have developed to study the genetic basis of several equine diseases such as Recurrent Airway Obstruction, Contracted Foal Syndrome, and infertility. Our approaches include Genome Wide Association studies using the Affymetrix equine SNP chip, gene expression microarrays, candidate gene mapping, microsatellite linkage studies, and proteomics. Under collaboration with Dr. Adelson (University of Adelaide), we recently developed a whole genome tiling array for horses so that we can also examine the contribution of copy number variation.

We are currently examining the role of major chromosomal rearrangements in equine reproductive disorders. Recently we have determined there is heterogeneity in the mutations responsible for XY sex reversal in horses. The MSY portion of the Y chromosome harbors testis-specific genes that have been tied to fertility disorders in humans and mice. Yet, the role they play in other species remains to be discovered. Interestingly, many important gene families present on the Y are lineage specific, for example, some the ones present in humans are not found in chimpanzees. We are therefore focusing on identifying and characterizing comparable MSY male-specific genes and gene families in horses, and examining their role in stallion fertility.

Research - Molecular Cytogenetics and Genomics Laboratory

Alpaca Genomics

In 2005, the alpaca became the first camelid species to have its genome sequenced, in an effort led by Dr. Warren Johnson at the National Cancer Institute. The Alpaca Genome Project, which also includes the generation of a medium-density Radiation Hybrid (RH) map for the alpaca, set the foundation for genomic studies in camelids. Such studies are critical for the development of molecular tools for reliable disease diagnostics and treatment in alpacas that will improve the health and welfare of these animals. In order to develop such useful tools detailed knowledge of the alpaca genome is needed. Therefore, our lab is currently developing a comprehensive cytogenetic map using Fluorescence in situ Hybridization (FISH). This cytogenetic map aims to efficiently integrate the genome sequence, RH map, and physical chromosome structure, as well as map candidate genes for traits of economic and biological importance in alpacas. Such genes include candidates for disease resistance, congenital disorders, reproduction, fiber color and texture. We are also interested in comparing the genome organization of alpacas and dromedary camels by constructing an alpaca/camel comparative chromosome map, in order to further understand camelid chromosome evolution. Finally, we are using the molecular markers generated by the alpaca cytogenetic map to study chromosomal abnormalities that affect the health of different camelid species.