HUMAN CHROMOSOME 4q21 DENTIN/BONE GENE CLUSTER: IMPLICATIONS IN DENTIN GENETIC DISEASE

2002 ◽  
Author(s):  
Mary MacDougall
Keyword(s):  
Human Chromosome ◽  
Gene Cluster ◽  
Genetic Disease ◽  
Chromosome 4Q21

Physical linkage of the gene cluster containing the LCAT gene to the DNA marker D16S124 at human chromosome region 16q22.1

1995 ◽  
Vol 68 (3-4) ◽  
pp. 194-196 ◽  
Author(s):  
E. Frengen ◽  
G. Brede ◽  
F. Larsen ◽  
G. Skretting ◽  
H. Prydz
Keyword(s):  
Human Chromosome ◽  
Gene Cluster ◽  
Dna Marker ◽  
Chromosome Region ◽  
Physical Linkage

scholarly journals Assignment of the mouse desmin gene to chromosome 1 band C3

1990 ◽  
Vol 55 (2) ◽  
pp. 101-105 ◽  
Author(s):  
Zhenlin Li ◽  
Marie-Geneviève Mattei ◽  
Jean-François Mattei ◽  
Denise Paulin
Keyword(s):  
Human Chromosome ◽  
Gene Cluster ◽  
Intermediate Filament ◽  
Chromosomal Localization ◽  
Chromosome 1 ◽  
Chromosome 2 ◽  
Gene Coding ◽  
Partial Homology ◽  
Conserved Gene

SummaryThe chromosomal localization of the mouse gene coding for desmin, one of the muscle-specific intermediate filament subunits, was determined by in situ hybridization using a specific 3H-labelled DNA probe. There is only one copy of the desmin gene and it is located on chromosome 1 in the band C3. This result adds an eleventh locus to a conserved gene cluster and confirms the partial homology that exists between the long arm of human chromosome 2 and chromosome 1 of the mouse.

scholarly journals Evolution of Transglutaminase Genes: Identification of a Transglutaminase Gene Cluster on Human Chromosome 15q15

2001 ◽  
Vol 276 (35) ◽  
pp. 33066-33078 ◽  
Author(s):  
Pascale Grenard ◽  
Mary Kay Bates ◽  
Daniel Aeschlimann
Keyword(s):  
Human Chromosome ◽  
Gene Cluster

Identifying and characterizing a five-gene cluster of ATP-binding cassette transporters mapping to human chromosome 17q24: a new subgroup within the ABCA subfamily

GeneScreen ◽  
2001 ◽  
Vol 1 (3) ◽  
pp. 157-164 ◽  
Author(s):  
Isabelle Arnould ◽  
Lynn M. Schriml ◽  
Catherine Prades ◽  
Marcia Lachtermacher-Triunfol ◽  
Thomas Schneider ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Gene Cluster ◽  
Atp Binding ◽  
Atp Binding Cassette Transporters ◽  
Atp Binding Cassette

Organization and evolution of the cytochrome P450 CYP2A-2B-2F subfamily gene cluster on human chromosome 19

1995 ◽  
Vol 41 (6) ◽  
Author(s):  
S.M.G. Hoffman ◽  
P. Fernandez-Salguero ◽  
F.J. Gonzalez ◽  
H.W. Mohrenweiser
Keyword(s):  
Cytochrome P450 ◽  
Human Chromosome ◽  
Gene Cluster ◽  
Chromosome 19 ◽  
Human Chromosome 19

scholarly journals Regulatory architecture of the RCA gene cluster captures an intragenic TAD boundary and enhancer elements in B cells

2020 ◽  
Author(s):  
Jessica Cheng ◽  
Joshua S. Clayton ◽  
Rafael D. Acemel ◽  
José L. Gómez-Skarmeta ◽  
Rhonda L. Taylor ◽  
...  
Keyword(s):  
B Cells ◽  
Gene Cluster ◽  
Genetic Disease ◽  
Regulatory Elements ◽  
Innate Immune ◽  
Altered Expression ◽  
Regulatory Architecture ◽  
Gene Enhancer ◽  
Regulators Of Complement Activation ◽  
Genetic Level

ABSTRACTThe Regulators of Complement Activation (RCA) gene cluster comprises several tandemly arranged genes which share functions in the innate immune system. RCA members, such as complement receptor 2 (CR2), are well-established susceptibility genes in complex autoimmune diseases. Altered expression of RCA genes has been demonstrated at both the functional and genetic level, but the mechanism underlying their regulation are not fully characterised. We aimed to investigate the structural organisation of the RCA gene cluster to identify key regulatory elements that influence the expression of CR2 and other genes in this immunomodulatory region. Using 4C, we captured extensive CTCF-mediated chromatin looping across the RCA gene cluster in B cells and showed these were organised into two topological associated domains (TADs). Interestingly, the inter-TAD boundary was located within the CR1 gene at a well-characterised segmental duplication. Additionally, we mapped numerous gene-gene and gene-enhancer interactions across the region, revealing extensive co-regulation. Importantly, we identified an intergenic enhancer and functionally demonstrated this element upregulates two RCA members (CR2 and CD55) in B cells. We have uncovered novel, long-range mechanisms whereby SLE susceptibility may be influenced by genetic variants, highlighting the important contribution of chromatin topology to gene regulation and complex genetic disease.

Sign in / Sign up

Export Citation Format

Share Document