This work provides an insight into the origin and evolution of the long arm of human chromosome 22.
Origin and evolution of the Cat Eye Syndrome critical
region in human chromosome 22q11.
Shunnosuke
Abe, Yusuke Kobayashi (Faculty of Agriculture, Ehime University)
In the
previous work, we demonstrated that human 3p25 synteny containing SYN2, PPARG,
MKRN2, and RAF1
was created during evolution of fish, and genomic duplications created four paralogous
syntenic copies in human chromosome regions 6p21, 7q31-7q34, 22q12-13, and Xp11.
In the present study, we further analyzed flanking genes of 3p25 syntenic
members identified in the Torafugu genomic database and determined their expression with
cDNA isolated from ovary and liver. CECR5 was found
in the upstream of RAF1 and CECR6 downstream of MKRN1 in Torafugu genomic scaffolds. In addition, the last exon of IL17R was located downstream of CECR6 on the opposite strand, in the same
configuration as seen in human chromosome 22q11, with a high degree of conservation in
sequence similarity and exon/intron structures. These
results supported that the major part of the long arm of human chromosome 22 (q11 to q13),
with a collinear order of IL17R, CECR6, and CECR5
(22q11) and SYN3 (22q12) and PPARA (22q13), is homologous to the ancestral 3p25
synteny containing a similar paralogous set of reference genes (SYN, PPAR, MKRN,
RAF, CECR5,
CECR6, and IL17R). It is also
noted that CECR5, CECR6, and IL17R
were likely to be functional in fish because their cDNAs were obtained from liver or ovary
in Torafugu.
Annual meetings of Japanese Society of Agricultural Biological Chemistry (Chu-Shikoku
Branch) at Tokushima University, 2004 Sept 18. Sesion D, number 6 (Abstracts p19)
http://molcellbiology.jp/jsbbacs/gyouji.html#kouenkai10
Other references:
1. Origin and evolution of the genomic region encoding RAF1, MKRN2, PPARG, and SYN2 in human chromosome 3p25. Shunnosuke Abe, Shigeki Chiba, Neena Mishra, Yasutaka Minamino, Hiroko Nakasuji Masanori Doi and Todd A. Gray, Marine Biotechnology, 2004, 6S: 404-412
2. Phylogenetic conservation of the MAKORIN2 gene, encoding a multiple zinc-finger-protein, antisense to the c-RAF proto-oncogene (2001), T Gray, K Azama, A. Min, M Drumm, S. Abe, and Rob Nicholls, Genomics, 77(3): 119-126
3. The genomic organization of MKRN1, and expression profiles of MKRN1, MKRN2, and RAF1 in yellowtail fish (Seriola quinqueradiata) (2003), Chhoun Chamnan,Shunnosuke Abe*, Masanori Doi, Shigeki Chiba and Todd A. Gray (2003). Journal of Egyptian-German Society of Zoology 43C:57-75
050703