The gene encoding sepiapterin reductase is located in central mouse Chromosome 6

The gene encoding sepiapterin reductase is located in central mouse Chromosome 6 942 Mammalian Genome 8, Brief Data Reports References 1. Stanier P, Henson JN, Eddleston J, Moore GE, Copp AJ (1995) Ge- nomics 26, 473-478 iloxaf 7plw 2. Krumlauf R, Holland PW, McVey JH, Hogan BLM (1987) Develop- -,, 9 [] [] 9 [] 9 ment 99, 603-617 ~SPr 2P13-11 sm 3. Dietrich WF, Miller JC, Steen RG, Merchant M, Darrtron D, Nahf R, -, ms mE] mE] ~.+. Gross A, Joyce DC, Wessel M, Dredge RD, Marquis A, Stein LD, 34 29 8 2 14 9 Goodman N, Page DC, Lander ES (1994) Nature Genet 7, 220-245 4. Karn T, Holtrich U, Br~tuninger A, BtJhme B, Wolf G, Riibsamen- Waidmann H, Strebhardt K (1993) Oncogene 8, 3433-3440 5. Lai C, Lemke G (1991) Neuron 6, 691-704 Fig. 1. Position of the Spr locus on mouse Chr 6. (Left) The segregation 6. Lai C, Lemke G (1994) Oncogene 9, 877-883 patterns of Spr and flanking genes in 96 backcross animals that were typed 7. Zerlin M, Julius MA, Goldfarb M (1993) Oncogene 8, 2731-2739 for all loci. Each column represents the chromosome inherited by back- 8. Johnson JD, Edman JC, Rutter WJ (1993) Proc Nail Acad Sci USA 90, cross progeny from their C3Hf � Mus spretus F~ parent, with black boxes 5677-5681 representing the presence of the M. spretus allele and white boxes repre- senting the C3Hf (M. musculus) allele at a given locus. The number of 9. Perez JL, Shen X, Finkernagel S, Sciorra L, Jenkins NA, Gilbert DJ, offspring inheriting each type of chromosome is listed at the bottom of Copeland NG, Wong TW (1994) Oncogene 9, 211-219 each column. (Right) A partial map of Chr 6 showing the location of Spr 10. Edelhoff, S, Lai C, Disteche DM (1995) Genomics 25, 337-339 in relation to other flanking genes. Recombination distances with standard 11. Lyon MF (1961) Genet Res 2, 92-95 errors between loci (in centimorgan) are shown to the left of the chromo- 12. Washburn L, Eicher EM (1986) Mouse News Lett 75, 28-29 some, and human homology regions are shown to the right. 13. Seldin MF (1996) Mamm Genome 6 (Suppl), $28-$50 hydroxylases (phenylalanine, tyrosine, and tryptophan hydroxy- The gene encoding sepiapterin reductase is lases) essential for the biosynthesis of the neurotransmitters dopa- mine, epinephrine, and serotonin [7]. A deficiency of BH4 cofactor located in central mouse Chromosome 6 metabolism leads to phenylalaninemia and also severe cerebral deterioration owing to the lack of the neurotransmitters [6]. All the Joomyeong Kim, 1'* Young Shik Park, 2 human genes for the BH4-biosynthetic pathway have been previ- Jae Hoon Chung, a Lisa Stubbs 1'* ously mapped to several chromosomes [5], The human SPR gene that catalyzes the last step of the BH4-biosynthesis has been as- 1Life Sciences Division, Oak Ridge National Laboratory, P.O. Box signed to Chr 2p14-p12 by in situ hybridization [5]. Recently, the 2008, Oak Ridge, Tennessee 37831-8077, USA mouse homolog of SPR has been isolated with two other pseudo- 2Department of Microbiology, Inje University, Kimhae 621-749, Korea genes [2]. With an interspecific backcross panel, mouse Spr has 3Department of Biological Sciences, Korea Advanced Institute of been mapped to the central region of Chr 6 in this report (Fig. 1). Science and Technology, Taejeon 305-701, Korea Our mapping data indicat6 that mouse Spr is located approxi- Received: 5 August 1997 / Accepted: 12 August 1997 mately 10.4 cM distal from Hoxal and 23.9 cM proximal from Tpi. The chromosomal location of mouse Spr to the central region of Species: Mouse Chr 6 is consistent with the known syntenic relationship between Locus name: Sepiapterin reductase human Chr 2 and mouse Chr 6. Locus symbol: Spr Map position: HoxA1-(lO.42 +_ 3.12)-Spr-(23.96 +_ 4.36)-Tpi; Acknowledgments: This work was supported by the U.S. Department of mouse Chromosome (Chr) 6. Energy (under contract DE-AC05-96OR22464 with Lockheed-Martin En- Methods of mapping: Interspecific backcross [(C3Hf/ ergy Systems, Inc.) and by the Korea Ministry of Education (grants to Y.S. R1VIgfSl'2ENURg/+ � M. spretus) x C3Hf/R]; N = 96 [1]. Park). Database deposit information: Genbank accession number U78076 (mouse). MGD-JNUM-41923, (mapping accession num- References ber). 1. Stubbs LJ, Carver EA, Shannon ME, Kim J, Geisler J, Generoso EE, Molecular reagents: The probe used to map Spr was derived from Stanford BG, Dunn WC, Mohrenweiser H, Zimmermann W, Watt SM, Ashworth LK (1996) Genomics 35, 499-508. the first exon of Spr by PCR with two primers (5'- 2. Lee SW, Park IY, Hahn Y, Lee JE, Chung JH and Park YS (1997) Gene CCGTCCCAAGCCAAGAATAG-3' and 5'-CGGCGGCTGC- in press CAGCACCACT-3') [2]. 3. Silver J (1985) J Hered 76, 436--440 Allele detection: DNA of backcross progeny was digested, trans- 4. Manly KF (1993) Mamm Genome 4, 303-313 ferred to Southern blots, and hybridized, as described [1]. Species- 5. Thony B, Heizmann CW, Manei, M-G (1995) Genornics 26, 168-170 specific alleles used to follow Spr, and enzyme used to generate them, included: C3Hf/R1 (M) = 9.5 kb, M. spretus (S) = 9.0 kb, 6. Duch DS, Smith GK (1991) J Nutr Biochem 2, 411-423 generated with EcoRI. Map positions were established by standard 7. Kaufman S (1993) Annu Rev Nutr 13,261-286 methods [3] with aid from the Map Manager data analysis program [4]. Published homolag: The human gene encoding sepiapterin reduc- Srbl maps to mouse Chromosome 5 in a tase has been mapped to human Chr 2p14-p12 [5]. region harboring putative QTLs for plasma Discussion: Sepiapterin reductase (gene symbol; SPR) is one of biosynthetic enzymes for tetrahydrobiopterin (BH4) redox cofac- lipoprotein levels tor [6]. The BH4 factor is required for the aromatic amino acid Carrie L. Welch, 1. Yu-Rong Xia, 1 Ling-Jie Gu, 1 Dietrich Machleder, 1 Margarete Mehrabian, 1 Correspondence to: J. Kim Ping-Zi Wen, 1 Nancy Webb, 2 Wil|em J.S. de Villiers, 2 * Present address: Human Genome Center, Lawrence Livermore National Laboratory, P.O. Box 808, L-452, Livermore, CA 94551, USA. Deneys van der Westhuyzen, 2 Aldons J. Lusis 1 Mammalian Genome Springer Journals

The gene encoding sepiapterin reductase is located in central mouse Chromosome 6

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