A High-resolution map of 1.6 Mb in the Down syndrome region: a new map between D21S55 and ETS2

Gosset, Philippe; Crété, Nathalie; Ait‐Ghezala, Ghania; Theophile, Didier; Broeckhoven, Christine Van; Vayssettes, Catherine; Sinet, Pierre-Marie; Créau, Nicole

doi:10.1007/bf00303257

Cited by 11 publications

(4 citation statements)

References 20 publications

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“…3). An accurate human physical map is available for the region between human CBR and ETS2 (Ichikawa et al 1993;DufresneZacharia et al 1994;Patil et al 1994;Gosset et al 1995;Osoegawa et al 1996;Ohira et al 1997). Distances on the human and mouse physical maps are well-conserved between CBR1 and ETS2.…”

Section: Discussionmentioning

confidence: 99%

“…Where gene orientation has been determined, an arrowhead indicates the direction of transcription. The consensus human physical map was compiled from several sources (Burmeister et al 1991;Chumakov et al 1992;Ichikawa et al 1993;Dufresne-Zacharia et al 1994;Patil et al 1994;Gardiner et al 1995;Gosset et al 1995;Korenberg et al 1995;Cabin et al 1996;Osoegawa et al 1996;Hubert et al 1997;Ohira et al 1997). With the exception of D21S15 and D21S349, the markers shown above the scale bar are known transcripts.…”

Section: ‫72מ‬mentioning

confidence: 99%

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Physical and Comparative Mapping of Distal Mouse Chromosome 16

Cabin¹,

McKee-Johnson²,

Matesic³

et al. 1998

Genome Res.

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Distal mouse Chromosome 16 (Chr. 16) includes a region of conserved linkage with human Chromosome 21 (Chr. 21). Mouse models of Down syndrome based on trisomy of distal Chr. 16 have several phenotypes similar to those seen in human patients and have proven useful for correlating dosage imbalance of specific genes with specific developmental anomalies. The degree to which such findings can be related to Down syndrome depends on how well the conserved synteny is maintained. Twenty-four genes have been mapped in both species and there are no discordancies, but the region could carry hundreds of genes. Comparative sequence represents the ultimate comparative map and will aid in identification of genes and their regulatory sequences. A physical map of the distal 4.5 Mb of Chr. 16 has been assembled as an essential step toward a map of sequence-ready templates. The map consists of 51 YACs and 15 BACs and includes 18 transcripts, 9 of which are mapped for the first time in mouse, and 3 of which are, for the first time, described in either species. YAC fragmentation was used to precisely localize the 49 markers on the map. Comparison of this physical map with that of the corresponding region on Chr. 21 shows conservation not only of gene order but of size in the 3 Mb fromCbr1 to Ets2; distal to Ets2, the human map is expanded.[The sequence data described in this paper have been submitted to GenBank. See Tables 1 and 2 for accession nos.]

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Section: Discussionmentioning

confidence: 99%

Section: ‫72מ‬mentioning

confidence: 99%

Physical and Comparative Mapping of Distal Mouse Chromosome 16

Cabin¹,

McKee-Johnson²,

Matesic³

et al. 1998

Genome Res.

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show abstract

“…Furthermore, the histological similarity between Wolfflin nodules and Brushfield spots (Donaldson, 1961; Jaeger, 1980), and the fact that the position and appearance of Brushfield spots for patients with Down’s syndrome can be quite similar to what is seen in normal controls (Figure 2C), suggests that the region on chromosome 21 that has been associated with Brushfield spots (Delabar et al., 1993), may also holds candidates genes for Wolfflin nodules. The genes ERG (Rao et al., 1987), ETS2 (Boulukos et al., 1988), HMG (Landsman et al., 1989), MX1 (Horisberger et al., 1988), WRB (Egeo et al., 1998), DSCR1 (Fuentes et al., 1995), and SH3BGR (Vidal‐Taboada et al., 1997) as well as other genes which map to this region (Gosset et al., 1995), could from this perspective be potential candidate genes for Wolfflin nodules. However, normal individuals that do have mutations in some of these genes, do not always have Wolfflin nodules or Brushfield spots, indicating that the appearance of Wolfflin nodules depend on the interaction between several genes.…”

Section: Wolfflin Nodulesmentioning

confidence: 99%

Genetics of human iris colour and patterns

Sturm

Larsson

2009

Pigment Cell Melanoma Res

187

128

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SummaryThe presence of melanin pigment within the iris is responsible for the visual impression of human eye colouration with complex patterns also evident in this tissue, including Fuchs' crypts, nevi, Wolfflin nodules and contraction furrows. The genetic basis underlying the determination and inheritance of these traits has been the subject of debate and research from the very beginning of quantitative trait studies in humans. Although segregation of blue-brown eye colour has been described using a simple Mendelian dominant-recessive gene model this is too simplistic, and a new molecular genetic perspective is needed to fully understand the biological complexities of this process as a polygenic trait. Nevertheless, it has been estimated that 74% of the variance in human eye colour can be explained by one interval on chromosome 15 that contains the OCA2 gene. Fine mapping of this region has identified a single base change rs12913832 T ⁄ C within intron 86 of the upstream HERC2 locus that explains almost all of this association with blue-brown eye colour. A model is presented whereby this SNP, serving as a target site for the SWI ⁄ SNF family member HLTF, acts as part of a highly evolutionary conserved regulatory element required for OCA2 gene activation through chromatin remodelling. Major candidate genes possibly effecting iris patterns are also discussed, including MITF and PAX6.

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“…The DCR is located around the 21q22.2 sub-band on the distal part of the long arm, contains probe D21S55, and is flanked by probes D21S17 and ERG (1)(2)(3). To facilitate analysis of this region, a genomic and yeast artificial chromosome (YAC) physical map spanning 3.8 Mb of DNA was recently established (4,5).…”

mentioning

confidence: 99%