Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Table 3.

Putative Genes Identified within the Mouse Syntenic Region of the SMCR

Group Gene names Accession number Exons mRNA (bp) ORF (aa) Expression profiles Reference Human homologs
I. Genes 2010013E09Rik AK008226 5 1271 111 N/1.8, all; RT embryo (+) NT5M
Flj10193 AF467888 2 740 142 N/4.0, 2.5, 1.3, all; RT/embryo (+) FLJ10193
Rasd1 NM_009026 2 1623 280 N/2.1, heart, brain, kidney, and liver Kemppainen and Behrend 1998 RASD1
Pemt NM_008819 7 600 200 N/1.0, only liver after birth Walkey et al. 1996 PEMT
Rai1 NM_009021 2 7222 1840 RT/adult (+), before embryo 10 dpc (+) RAII
Srebf1 AF374266 18 3570 1076 RT/ubiquitous SREBF1
Tom112 AF467887 15 1678 507 N/all, with 7 splice variants; RT/embryo (+) TOM1L2
4930449E07Rik AK015430 14 1860 523 N/2.2, predominantly in testis; RT/embryo at 15 dpc (+) DKFZp586M1120
Atp12 BC013607 8 1813 289 RT/ubiquitous ATP12
4933439F18Rik AK017120 8 1717 217 N/2.0, all except spleen; RT/embryo (+) MGC3048
Drg2 NM_021354 13 1713 364 N/2.0, low in sk. mus. Li et al. 2000 DRG2
Myo15 NM_010862 66 11769 3511 N/1.2, pituitary gland Liang et al. 1999 MYO15A
LIglh NM_008502 22 4279 1034 RT/adult (+), embryo (+) Tomotsune et al. 1993 LLGLI
Fliih NM_022009 31 4012 1271 RT/adult (+), embryo (+) FLII
Top3a AB006074 20 3741 1003 N/3.8, predominantly in testis Seki et al. 1998 TOP3A
Shmtl AF237702 13 1771 478 N/2.1, 3.2, liver Liu et al. 2001 SHMT1
II. Predicted genes 1700013G23Rik AK005951 2 293 NA RT/testis
Flj20308 BI412421 3 783 NA N/6.0, 3.5; ubiquitous FLJ20308
Ubl NA 2 cluster NA RT/ubiquitous
Pabplp NA 2 cluster NA RT/testis, weak in embryos 10 dpc and 15 dpc
Smcr7 BF582554 1 694 NA N/2.6, heart, liver; RT/embryo after 10 dpc (+) SMCR7
Smcr8 AK010198 1 1050 NA N/7.5, 3.8-all except sk. mus.; RT/embryo (+) SMCR8
III. Pseudogene Rps4
Protein tyrosine phosphatase 1F2
Gapd
  • References for gene expression profile. NA, not available. For the gene expression profile, N means data from Northern blotting, and the numbers after the N are the sizes of transcripts in kilobases; RT means data from RT-PCR analyses. Reference is for gene expression profile.

This Article

  1. Genome Res. 12: 713-728

Preprint Server