JSikela

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James Sikela
Bio

James Sikela is currently a Professor in the Department of Biochemistry and Molecular Genetics and Human Medical Genetics and Neuroscience Programs at the University of Colorado School of Medicine. He is also Co-Director of the Consortium for Comparative Genomics at the University of Colorado. He received his Ph.D. in molecular biology at Case Western Reserve University before doing postdoctoral work at Stanford and the University of Colorado where he studied gene expression in the mammalian brain. He has made several innovative contributions to the Human Genome project, including helping to pioneer the sequence-based gene identification strategy now known as EST sequencing, and his development of the rapid gene mapping method that was used to make the most comprehensive human gene maps in the late 1990’s. His current research is focused on human evolutionary genomics and the study of lineage-specific gene copy number variation among human and other primate species. In this regard, his team was the first to use array-based comparative genomic hybridization (aCGH) to carry out genome-wide and gene-based surveys of copy number variation across human and non-human primates, currently encompassing over 60 million years of human and primate evolution. He is particularly interested in identifying the genomic changes that contribute to lineage-specific traits in these species, such as those that underlie the evolutionarily unique capacities of the human brain. Toward this end, his lab was first to identify the striking human lineage-specific copy number increase of DUF1220 domains, sequences that are candidates to underlie key elements of human brain evolution.

URL
http://pharmacology.ucdenver.edu/faculty/sikela/sub_sikela/about.html

MOCA Domains

Listed here are the MOCA domains with which this user account is associated in addition to the type of involvement (Editor and/or Leader).

DomainInvolvement
CognitionEditor
Gene Family Expansion and LossLeader
GeneticsLeader
GenomicsLeader
Mental DiseaseEditor
Novel Chromosome Features and Banding Patterns Leader

MOCA Topics

Listed here are the MOCA topics for which this user account is one of the authors.

TopicDomain
ABCB10 (ATP-binding cassette, subfamily B (MDR/TAP) member 10)Genetics
Amino Acid Sequences
Amplification of Short Tandem RepeatsGenomics
AMY1A (amylase, alpha 1A)Genetics
APOC1 (apolipoprotein C-I)Genetics
AQP7 (aquaporin 7)Genetics
ARHGEF5 (Rho guanine nucleotide exchange factor (GEF) 5)Genetics
ASPM (asp (abnormal spindle) homolog, microcephaly associated)Genetics
C20orf203 (chromosome 20 open reading frame 203)Genetics
C22orf45 (Chromosome 22 open reading frame 45)Genetics
CASP12 (caspase-12 gene/pseudogene)Genetics
CDH12 (cadherin 12, type 2 (N-cadherin 2) )Genetics
CHRFAM7A (CHRNA7 (cholinergic receptor, nicotinic, alpha 7) and FAM7A (family with sequence similarity 7A) fusion)Genetics
CHRM3 (Cholinergic receptor, muscarinic 3)Genetics
Chromatin-Stained Banding PatternsNovel Chromosome Features and Banding Patterns
Chromosome Number and the Chromosome 2 FusionNovel Chromosome Features and Banding Patterns
CKB (Creatine kinase brain)Genetics
CLLU1 (Chronic lymphocytic leukemia up-regulated 1)Genetics
DDX11L (DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like)Genetics
Deletions
DNAH10OS (Dynein, axonemal heavy chain 10 opposite strand)Genetics
DRD5 (Dopamine receptor D5)Genetics
Duplication and Amplification of SPANX genesGene Family Expansion and Loss
DUSP22 (Dual specificity phosphatase 22)Genetics
DUXGene Family Expansion and Loss
DUX2 (double homeobox 2 )Genetics
E2F6 (E2F transcription factor 6)Genetics
ELN (elastin)Genetics
Expansion and Redistribution of Heterochromatin Genomics
FCGR1A (Fc fragment of IgG, high affinity Ia, receptor (CD64))Genetics
FGFR2 (fibroblast growth factor receptor 2)Genetics
FRMPD2 (FERM and PDZ domain containing 2)Genetics
Gene ConversionGenomics
Genomic DNA Sequences
GLRA4 (Glycine receptor, alpha 4)Genetics
GRIN3A (Glutamate receptor, ionotropic, N-methyl-D-aspartate 3A)Genetics
GRIN3B (Glutamate receptor, ionotropic, N-methyl-D-aspartate 3B)Genetics
GTF2H2 (General transcription factor IIH, polypeptide 2, 44kDa)Genetics
GTF2IRD2 (GTF2I repeat domain containing 2)Genetics
HAR1 (human accelerated region 1)Genetics
HLA-DRB1 (major histocompatibility complex, class II, DR beta 1 )Genetics
HLA-DRB1 familyGene Family Expansion and Loss
Human Accelerated Regions (HARs) and Changes in Conserved Sequences Genomics
Human-Specific Insertions and Deletions (Indels)Genomics
HYDIN (Hydrocephalus inducing homolog)Genetics
Increase in DUF1220 DomainsGenomics
Insertions
Introns and Exons
Inversions
KIRGene Family Expansion and Loss
KIR3DL1 ( killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1)Genetics
KRT41P (keratin 41 pseudogene)Genetics
Kruppel-type Zinc Finger FamilyGene Family Expansion and Loss
Large-scale Genomic Duplications
LEPR (Leptin receptor)Genetics
Loss of T-Cell ReceptorsGene Family Expansion and Loss
Maps by ChromosomeGenomics
MBL1P ( mannose-binding lectin (protein A) 1, pseudogene )Genetics
MCPH1 (microcephalin 1)Genetics
MHC Class I Genetics
Mitochondrial DNA Changes and Migration to the NucleusGenomics
MOXD2P (monooxygenase, DBH-like 2, pseudogene )Genetics
MRC1 (Mannose receptor, C type 1)Genetics
NAIP (NLR family, apoptosis inhibitory protein )Genetics
NBPFGene Family Expansion and Loss
NBPF15 (neuroblastoma breakpoint family, member 15)Genetics
NCF1 (Neutrophil cytosolic factor 1)Genetics
Novel Centromeres
Novel Centromeres, Pericentric Inversions and Pericentromeric ExpansionGenomics
Novel Epigenetic MarkingsGenomics
Novel Features in Chromosome YNovel Chromosome Features and Banding Patterns
Novel Segmental Duplications/Low Copy RepeatsGenomics
OCLN (Occludin)Genetics
Olfactory ReceptorsGene Family Expansion and Loss
OR4F17 (olfactory receptor, family 4, subfamily F, member 17)Genetics
OR9I2P (olfactory receptor, family 9, subfamily I, member 2 pseudogene )Genetics
PCDH11XY (protocadherin 11 X Y linked)Genetics
PDE4DIP (Phosphodiesterase 4D interacting protein)Genetics
Percent Identity of Genomic DNA Sequences, of Introns and Exons, and of Amino Acid Sequences Genomics
Pericentric Inversions
Pericentromere Expansion
PKD1 (polycystic kidney disease 1)Genetics
PTPN20A (Protein tyrosine phosphatase, non-receptor type 20A)Genetics
RAB3IP (RAB3A interacting protein)Genetics
Recombination Hotspots Related to Human-Specific Genomic ChangesGenomics
RGS6 (Regulator of G-protein signaling 6)Genetics
RLN (relaxin)Genetics
S100A7 (S100 calcium binding protein A7)Genetics
SERF1A (Small EDRK-rich factor 1A)Genetics
SERPINA13 (Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13)Genetics
SIGLEC Gene Family Expansion and Loss
Single Nucleotide Changes
SLC6A8 (solute carrier family 6 (neurotransmitter transporter, creatine), member 8)Genetics
SMN1 (Survival of motor neurone 1)Genetics
SMN2 (Survival of motor neurone 2)Genetics
SPANXB (SPANX family, member B)Genetics
SPANXC (SPANX family, member C)Genetics
SRGAP2 (SLIT-ROBO Rho GTPase activating protein 2)Genetics
Subtelomeric Rearrangement
Taste ReceptorsGene Family Expansion and Loss
TBC1D3 (TBC domain family, member 3)Genetics
TDG (Thymine-DNA glycosylase)Genetics
TDH (L-threonin dehydrogenase)Genetics
Telomere Contraction
Telomere Expansion
Telomere Expansion, Contraction and Subtelomeric RearrangementGenomics
TH (tyrosine hydroxylase)Genetics
THBS4 (Thrombospondin 4)Genetics
TRGV10 (T cell receptor gamma variable 10)Genetics
Triplet Repeat Expansions
Unique Genomic Insertions, Deletions, Inversions and Single Nucleotide ChangesGenomics
UOX (urate oxidase, pseudogene)Genetics
ZNF322 (Zinc finger protein 322)Genetics