Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli- Opitz Syndrome Christopher A. Wassif, Cheryl Maslen, Stivelia Kachilele-Linjewile,

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Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli- Opitz Syndrome Christopher A. Wassif, Cheryl Maslen, Stivelia Kachilele-Linjewile, Don Lin, Leesa M. Linck, William E. Connor, Robert D. Steiner, Forbes D. Porter The American Journal of Human Genetics Volume 63, Issue 1, Pages 55-62 (July 1998) DOI: 10.1086/301936 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Nucleotide and amino acid sequence of clone pH7DHCR encoding the human sterol Δ7-reductase. Amino acids that are identical between the human cDNA and the A. thaliana cDNA are underlined and are in boldface type. Amino acids that are similar are gray shaded (BLASTP 2.0.4). A putative polyadenylation signal in the 3′ UTR is underlined. The American Journal of Human Genetics 1998 63, 55-62DOI: (10.1086/301936) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Northern blot analysis comparing expression of the human sterol Δ7-reductase mRNA from fibroblasts grown with fetal bovine serum (+), compared with fibroblasts grown in lipoprotein-deficient serum (−). A 7.5-μg sample of total RNA was loaded in each lane. The DHCR7 transcript is ∼4 kb. Equivalent loading of samples was confirmed by means of a probe to human GADPH (data not shown). The American Journal of Human Genetics 1998 63, 55-62DOI: (10.1086/301936) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 DHCR7 locus integrated into the radiation-hybrid map of human chromosome 11, with correlation to the genetic and cytogenetic maps. Numbers to the right of the radiation hybrid and genetic maps indicate distances from the top of the maps, in cR3000 and cM, respectively. The inferred position of the DHCR7 gene at 11q12-13 is indicated by the bar to the left of the ideogram. The American Journal of Human Genetics 1998 63, 55-62DOI: (10.1086/301936) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 4 134-bp insertion in A2SLO. A, Nucleotide sequence and predicted amino acid sequence of the mutant allele. The normal nucleotide sequence is in uppercase letters, and the inserted sequence is in lowercase letters. Aberrant amino acids are in lowercase letters. B, Northern blot analysis of sterol Δ7-reductase transcript from control and SLOS fibroblasts. The transcript from the A2SLO cell line is slightly larger. C, Ethidium bromide–stained gel of PCR products from control (lanes 1 and 2), A2SLO, and B3SLO cell lines. The expected 605-bp product was found in the control and B3SLO cell lines. A single aberrant 739-bp fragment was found in the A2SLO sample. The American Journal of Human Genetics 1998 63, 55-62DOI: (10.1086/301936) Copyright © 1998 The American Society of Human Genetics Terms and Conditions