International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 162 - TOWARD THE IDENTIFICATION OF THE NEW RECESSIVE CATARACT GENE (LR2) ON MOUSE CHROMOSOME 14 BY POSITIONAL CLONING

Prof. Sungjoo Kim Yoon
The Catholic University of Korea
505 Banpo-dong, Seocho-ku
Seoul
137-040
Korea

Co-Authors: 1) Eunmin Kim, 1)Hyoungnam Lee, 1)Sungjoo Kim Yoon.  2) Sang Dal Rhee, 2)Sung-Don Yang, 2)Chang-Woo Song.  3) Yeong-Gwan Park, 3)Masaaki Okumoto
Institutions: 1) CRIMS, Korea.  2) KRICT, Korea, 3) Osaka Prefecture University, Japan

A recessive cataractous mouse, CXSD, showed the first clinical symptom of cataract at 5 weeks old and the penetrance was complete.  In order to identify lens rupture 2 gene (lr2) causing cataract by positional cloning, we mapped the locus genetically and constructed the physical map spanning the critical region. Using total of 586 intersubspecific F2 mice between cataract mutant mice, CXSD and Mus musculus molossinus (MSM/Ms or MSM), we determined the order of microsatellite markers and several candidate genes using SSLP and SSCP analysis.  The order from centromere to telomere was follows; D14Mit156- D14Mit88 - D14Mit235 - (D14Mit102, 203, Clu, Ptk2b) - (D14Mit143, 158, 262) - (D14Mit28, 6.1) - (D14Mit87) - (D14Mit86, 217, 216) - (D14Mit39, 159, Adam7) - (D14Mit89, 237) - D14Mit67 - D14Mit34. Homozygosity mapping of 142 F2 cataractous mice and additive mating experiment revealed the commonly-inherited regions at D14Mit28 and D14Mit87, which contains the region syntenic to human Chr 8p21-22.  To define lr2 - linked region physically, we constructed an STS-content map of the region spanning D14Mit158 and D14Mit30.  We determined the physical order of 54 STSs that were dispersed among 20 YAC clones and 75 BAC clones. The markers included 11 genetic, 38 clone-end, 5 gene specific EST markers. Five genes include Mmot1, Gnrh, Nfl, Nfm and Adam 7.

*Supported by the grant (2001) from MOST in Korea


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