1. Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number 
D.W. Parsons, P.E. McAndrew, S.T. Iannaccone, J.R. Mendell, A.H.M. Burghes, T.W. Prior 
The American Journal of Human Genetics 
Volume 63, Issue 6, Pages (December 1998)
DOI: /302160
Copyright © 1998 The American Society of Human Genetics Terms and Conditions

2. Figure 1
Distribution of reported intragenic telSMN mutations. Mutations identified in the 11 OSU patients (and the resulting SMA phenotypes) are drawn above the telSMN coding region. The S262I and T274I mutations also were reported by Hahnen et al. (1997). SIP1 and Sm protein-binding sites, as well as the SMN oligomerization domain (denoted “SMN”), are indicated by straight lines under the gene. The region of telSMN exons 6 and 7 is shown in greater detail at the bottom of the figure. Refer to table 2 for the authorship of specific mutations.
The American Journal of Human Genetics  , DOI: ( /302160)
Copyright © 1998 The American Society of Human Genetics Terms and Conditions

3. Figure 2
FokI restriction-enzyme analysis of SMN exon 1 subclones. Lane 1, Uncut 189-bp exon 1 colony-PCR product. Lanes 2–4, Colony-PCR products digested with FokI. The control subclone in lane 2 does not contain either the mutation or the polymorphism and, consequently, was not cut by FokI. The control subclone in lane 3 has the polymorphism and was cleaved into 32-bp and 157-bp fragments. An A2G-patient subclone is present in lane 4; as with the other two A2G patients, the polymorphism is present on the same SMN allele as the point mutation, resulting in fragments of 32, 47, and 110 bp after FokI digestion. Lane MW, ϕX174/HaeIII molecular-weight marker. Bands representing sizes of 234, 194, 118, and 72 bp are labeled.
The American Journal of Human Genetics  , DOI: ( /302160)
Copyright © 1998 The American Society of Human Genetics Terms and Conditions

4. Figure 3
Semiquantitative RT-PCR analysis of SMN transcripts. The HPRT RT-PCR product is present at the top of the gel, with products amplified from full-length SMN transcripts (SMNfull) and the SMN isoform lacking exon 7 (SMN−ex7) below. Lanes 1 and 6, Normal controls (SMNfull/HPRT ratios of 0.74 and 2.45, respectively). Lane 2, Patient with type II SMA who homozygously lacks telSMN. Lanes 3 and 4, SMA patients with telSMN missense mutations A2G (SMNfull/HPRT ratio of 1.76) and S262I (SMNfull/HPRT ratio of 0.28), respectively. Lane 5, Potential SMA compound heterozygote in whom no telSMN mutation has been identified (SMNfull/HPRT ratio of 0.89).
The American Journal of Human Genetics  , DOI: ( /302160)
Copyright © 1998 The American Society of Human Genetics Terms and Conditions