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The T-box developmental gene family was originally described in the mouse (Bollag et al. 1994), and homologs were subsequently identified in a wide variety of metazoans (Agulnik et al. 1995). T-box genes encode transcription factors that are expressed differentially during embryogenesis and/or in tissue-specific fashion throughout adulthood (reviewed in Smith 1997). The importance of T-box genes recently was underscored by the identification of TBX gene mutations in two human developmental diseases— TBX5 in Holt-Oram syndrome (Li et al. 1997; Basson et al. 1997) and TBX3 in ulnar-mammary syndrome (Bamshad et al. 1997). Here we report the isolation and mapping of a new T-box family member, TBX10/Tbx10, in human and mouse. We isolated the human clone from a lambda Charon 4A lymph node genomic library (ATCC LI014), using reduced stringency hybridization with a mouse Tbx1 cDNA probe. This probe is comprised of sequence within the highly conserved T-box region of Tbx1 (nt258-nt439 of GenBank entry MMU57327), and, as expected, the isolated clone showed high sequence similarity to the T-box of both mouse Tbx1 and human TBX1 (Chieffo et al. 1997). Human TBX1 resides at Chromosome (Chr) 22q11, syntenic to the map location of mouse Tbx1 on Chr 16 (Chieffo et al. 1997). Our localization of human TBX10 to Chr 11q13 (Figs. 1, 2A) and gene sequence analysis (Fig. 3) confirm that the isolated gene is a related, but distinct, member of the Tbx1 subfamily, which we have designated TBX10. By FISH analysis, human TBX10 maps to Chr 11q13 (Fig. 1). To refine the map location, human TBX10 was isolated in a CEPH/Genethon YAC contig linked to anonymous markers spanning 11q13.1-q13.2 (Fig. 2A). YAC clones 894A10 and 809C9 were isolated using an STS based on TBX10 exon sequence (TBX10Exon-F:58-TTAGACAGCTCGGCCTGG-38 and TBX10Exon-R: 58-CATTGTCATCCAGCAGGTTG-38). The YAC contig in Fig. 2A shows that human TBX10 is within 100 kb of anonymous marker AFMa152yh1 at 11q13.2. This places TBX10 in close proximity to the locus for Bardet-Biedl syndrome 1 (BBS1), an autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, mental retardation, and renal malformations (Bruford et al. 1997; Leppert et al., 1994). Screening of the GenBank database with human TBX10 sequence identified mouse T-cell cDNA clones 550940 (GenBank Accession No. AA098449) as a highly significant match. A probe derived from this clone was mapped on the BSS backcross panel to proximal Chr 19 and co-segregated with marker D19Bir1 (Fig. 2B; MGD-JNUM-43729). This location is within a region of known synteny to human Chr 11q13 (DeBry and Seldin 1996). To further confirm that we were studying the mouse ortholog of the human TBX10 gene, we compared available gene sequence outside of the highly conserved T-box (Fig. 3). High homology in Correspondence to: D.J. Law

TBX10, a member of the Tbx1-subfamily of conserved developmental genes, is located at human Chromosome 11q13 and proximal mouse Chromosome 19