Integrated physical and transcript map of 5q31.3-qter

Abstract

We have constructed a physical and transcript map of 5q31.3-qter. The contig comprises 173 yeast artificial chromosomes (YACs) to which 159 sequence tagged sites (STSs), 47 expressed sequence tags (ESTs), and 32 genes were assigned. Previously published partial YAC contigs of the region have been refined and integrated. Given that the region contains 25 Mbp of DNA the average spacing of markers is approximately 100 kb.

Narrowing and genomic annotation of the commonly deleted region of the 5q− syndrome

“…16 In that earlier publication, 20 genes were assigned to the CDR by means of Ensembl, 16 and 18 of these represent known genes. 9,11 This compares with a total of 40 genes, both known and novel, assigned to the CDR in this current study. The greater number of novel genes presented here represents a significant difference between the 2 data sets.…”

“…9,[11][12][13][14] Gene-dosage experiments 14 were also designed for the determination of the allelic loss of the 5q13-assigned probe 153 (subclone of YAC 153A2). Granulocyte and T-lymphocyte cell fractions were separated from peripheral blood samples obtained from patients with the 5qϪ syndrome by means of Ficoll gradient centifugation and erythrocyte rosetting as previously described.…”

“…4 A series of cosmid and yeast artificial chromosome (YAC) clones corresponding to known genes or DNA markers (and, where appropriate, bacterial artificial chromosome [BAC] clones) mapping to 5q31-5q34 were used for FISH analysis ( Figure 1A). 4,9,10 The 5q13-assigned YAC 153A2 was also used for FISH analysis 4 of the proximal breakpoints.…”

Analysis of the Set of GABAA Receptor Genes in the Human Genome

“…␣1 ␤2 ␥2 is the most abundant GABR subtype (62). Another interpretation of the clusters (13,29,30) is that they arose from an ancestral ␣␤␥ receptor set by a series of duplications, sequence divergences, and chromosomal translocations. There is evidence, for example, that human chromosomes 4 and 5 had a common single chromosome ancestor (63), which could explain the similar pattern of their GABR clusters.…”

“…Chromosome 5 Cluster-The two ␣, one ␤, and one ␥ genes here (13,30) are organized as shown in Fig. 3B.…”