Genomic structure and chromosomal localization of the mouse gene Punc

Abstract

The mouse gene Punc encodes a member of the immunoglobulin superfamily of cell surface proteins. It is highly expressed in the developing embryo in nervous system and limb buds. At mid-gestation, however, expression levels of Punc decrease sharply. To allow investigation of such a regulatory mechanism, the genomic locus encompassing the Punc gene was cloned, characterized, and mapped. Fluorescent in situ hybridization was used to determine the chromosomal location of the Punc gene of mouse and human. Mouse Punc maps to Chromosome (Chr) 9 in the region D-E1, whereas the human PUNC gene is localized to Chr 15 at 15q22.3-23, a region known to be syntenic to mouse 9D-E1. The human PUNC gene therefore maps close to a genetic locus that is linked to Bardet-Biedl Syndrome, an autosomal recessive human disorder. Confirmation for the location of human PUNC was obtained through sequence relationships between mouse Punc cDNA, human PUNC cDNA, genomic sequence upstream of the murine Punc gene, and human STS markers that had been previously mapped on Chr 15. The STS sequence WI-14920 is in fact derived from the 3'-untranslated region of the human PUNC gene. WI-14920 had been placed at 228cR from the top of the Chr 15 linkage group, which provided positional information for the human PUNC gene at high resolution. Thus, this study identifies PUNC as the gene corresponding to a previously anonymous marker and serves as a basis to investigate its role in genetic disorders.

Impaired Motor Coordination in Mice That Lackpunc

“…The PUNC EST was most closely linked to SHGC-36468, with an LOD score of 7 at 28 cR (Bin 34). This localization is consistent with the localization of PUNC to 15q22.3-23 by in situ hybridization (30). The distal marker for DFNB16, D15S1039, was most closely linked to CHLC.GATA63A03, with an LOD score of 9 at cR (Bin 14).…”

Cloning and Expression of Nope, a New Mouse Gene of the Immunoglobulin Superfamily Related to Guidance Receptors

“…Y09535, position 5107 to 5367), 5Ј-TCAAGCAGTTGACACTTGACT-GTG-3Ј and 5Ј-TAATCTCACAGTGATGAGAGGAGA-3Ј, amplicon size 260 bp; 296S, 5Ј-CTGTGTCTCAATCTTGAACAAACACA-3Ј and 5Ј-GGAAGAGAGACAGTAAACATTTCGT-3Ј, amplicon size 266 bp; 331T, 5Ј-CTCCCTTCCTTCCTGATCGTTTTC-3Ј and 5Ј-CGGCTCT-CAAGCACTGCAGATTTTG-3Ј, amplicon size 111 bp. The marker 296S was derived from the end sequence of a bacterial artificial chromosome (BAC) clone containing the Nope gene and is located 5Ј-upstream of Nope; the marker 331T was derived from an overlapping BAC clone containing part of the Nope gene and all of the Punc gene (Salbaum, 1999) and is located 3Ј downstream of the Punc gene. Hot-start PCR conditions were 94°C for 3 min, followed by 35 cycles of 93°C for 30 s, 58°C for 30 s, and 72°C for 75 s, and included a final step at 72°C for 5 min.…”

“…Downregulation of Punc may therefore constitute an early step of motor neuron differentiation and illustrates how transcriptional control of cell surface properties can contribute to development and cell differentiation. To investigate the regulatory mechanism that controls the expression of the Punc gene, we decided to clone and characterize the genomic region encompassing the Punc gene and its upstream region (Salbaum, 1999).…”

09/15: Comparative Genomics of a Conserved Chromosomal Region Associated with a Complex Human Phenotype

“…It is also highly expressed in the developing nervous system and in the developing limbs, but sharply downregulated in midgestation. It was mapped by FISH to mouse chromosome 9 (band D-E1), and human chromosome 15 (Salbaum, 1999). Moreover, the human Punc gene sequence contains the STS marker WI-14920 (Salbaum, 1999), previously mapped to human chromosome 15 (Hudson et al, 1995).…”

“…It was mapped by FISH to mouse chromosome 9 (band D-E1), and human chromosome 15 (Salbaum, 1999). Moreover, the human Punc gene sequence contains the STS marker WI-14920 (Salbaum, 1999), previously mapped to human chromosome 15 (Hudson et al, 1995). Adjacent to Punc, another member of the same Igfamily subclass was found, Nope (neighbor of Punc/E11) (Salbaum and Kappen, 2000).…”