Supplemental Data

Supplemental Data

Files in this Data Supplement:

• Supplemental Figure S1 - Analysis of AGPAT2, Lamin A/C and Seipin mRNA in lymphoblastoid cells derived from the proband with the CAV1 p.Glu38X mutation. A. Normal relative expression of AGPAT2, Lamin A/C and Seipin genes in the patient. mRNA levels were measured by Real-time fluorescent PCR and expressed as a ratio to TATA box binding protein as the reference gene. The results are expressed as the mean ± SEM of three independent experiments. No significant differences of the relative genes expression were observed in the proband as compared to a group of three control individuals. B. Qualitative analysis of AGPAT2, Lamin A and Seipin cDNAs. The entire coding region of each cDNA was amplified by PCR and the sizes of the PCR products were identical in the patient and the control confirming the absence of splice variants. Taken together with the absence of mutations on sequencing all exons and splice junctions, these data confirm the absence of any molecular alteration in AGPAT2, Lamin A/C and Seipin, the major genes implicated in lipodystrophy.
• Supplemental Figure S2 - Haplotype analysis in the Brazilian family cosegregating at CAV1 locus. Individuals were genotyped with 4 microsatellite markers spanning 1 Mb interval. Microsatellite markers and CAV1 (located about 100 kb telomeric to AFM242yc3) are indicated on the left. The genotypes are the numbers corresponding to the size of each allele. Italic characters are used to represent the father's genotypes which were inferred from the relatives because of the absence of DNA for study. Colored filled boxes represent the different alleles. The mutation in CAV1 exon 2 (c.112G > T ) leading to p.Glu38X is embedded in the paternal A-allele and the maternal D- allele. The patient inherited both carrier alleles and therefore is homozygous for the CAV1 mutation.