Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in.

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Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II Erwin van Wijk, Ronald J.E. Pennings, Heleen te Brinke, Annemarie Claassen, Helger G. Yntema, Lies H. Hoefsloot, Frans P.M. Cremers, Cor. W.R.J. Cremers, Hannie Kremer The American Journal of Human Genetics Volume 74, Issue 4, Pages 738-744 (April 2004) DOI: 10.1086/383096 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 Schematic representation of the USH2A protein structure. A, The previously described short isoform. B, The putative long isoform corresponding to the longest ORF. Novel mutations in the long isoform are depicted. The American Journal of Human Genetics 2004 74, 738-744DOI: (10.1086/383096) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 Expression profile analysis by semiquantitative RT-PCR analysis of USH2A. A, RT-PCR specific for the transcript encoding the short isoform. B, RT-PCR specific for transcript(s) encoding the long isoform(s). Samples were taken after 25, 30, and 35 cycles. The RNA used for RT-PCR analyses was derived from the following tissues: fetal (1) eye, (2) cochlea, (3) brain, (4) CNS, (5) stomach, (6) intestine, (7) skeleton, (8) heart, (9) tongue, (10) kidney, (11) lung, and (12) liver; adult (1) retina, (2) RPE-choroid, (3) cornea, (4) brain, (5) skeletal muscle, (6) heart, (7) kidney, (8) lung, (9) liver, and (10) testis. Expression of the short isoform was detected in several fetal and adult tissues, whereas expression of the long isoform was only detected in adult retina (predominantly), heart, and kidney. The American Journal of Human Genetics 2004 74, 738-744DOI: (10.1086/383096) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 3 Mutations in the novel exons of the USH2A gene. In each panel, the upper sequence pane shows the heterozygous mutation in the patient. The lower pane depicts the wild-type sequence. The American Journal of Human Genetics 2004 74, 738-744DOI: (10.1086/383096) Copyright © 2004 The American Society of Human Genetics Terms and Conditions