Table 1.

Paralogous Genes Located Within Duplicated Regions on Chromosomes 16p11–p13, 17q11–q25, and 22q11–q24

Chromosome 16 Chromosome 17 Chromosome 22
gene RH map cytologenetic gene RH map cytologenetic gene RH map cytologenetic
ARHGDIG  19.8516p13.3 ARHGDIA 537.27 17q25.3
CSNK1D 501.76–539.5817q25 CSNK1E 131.3622q12–q13
SSTR5  25.1416p13.3 SSTR2 460.3217q24 SSTR3 111.72–124.0122q13.1
CACNA1H 44.93–65.9416p13.3 CACNA1G 347.18–351.6617q22 CACNA1I 137.86–138.6122q12.3–q13.2
SYNGR3 65.01–65.3316p13.3 SYNGR2 N.D.17qtel SYNGR1 138.1922q13
RPL3L  65.0116p13.3 RPL3 138.1922q13
CREBBP 62.52–68.9016p13.3 EP300 N.D.22q13.2
SOX9 448.88–466.0917q24.3–q25.1 SOX10 115.1522q13
GRIN2A   95.4–100.9216p13.2 GRIN2C N.D.17q24–q25
PMM2 N.D. 16p13.3–p13.2 PMM1 126.67–138.7822q13.1
TOP3L** 191.1516p11.2 TOP3B N.D.22q11
CRYM 191.25–192.9716p13.11–p12.3 CRYBA1 N.D.17q11.1–q12 CRYBA4 72.13–76.4222q12.1
CRYBB1 72.13–76.4222q11.2–q12.1
CRYBB2 72.13–76.4222q11.2–q12.1
CRYBB3 72.13–76.4222q11.2–q12.1
PRKCB1 197–200.5616p11.2 PRKCA 421.6717q22–q23.2
CACNG3** 197    16p12–13.1 CACNG5** 421.1617q24 CACNG2 11222q12–q13
CACNG4** 421.1617q24
CACNG1 421.1617q24
TBX6 N.D.16p11.2 TBX2 371.4517q23 TBX1 N.D.22q11.2
TBX4* 385.3117q23
TBRL** 338.9517q23
CLTC 376.31–377.4517q11–qter CLTCL N.D.22q11.2

[i] RH map values refer to 3000 cR on the Genebridge4 (GB4) radiation hybrid mapping panel (Gyapay et al. 1996; Deloukas et al. 1998; GeneMap '98). Cytogenetic locations are from OMIM. (*) Previously identified but not mapped. (**) Novel genes identified in this study. (ARHGDI) Rho gdp-dissociation inhibitor; (CSNK) casein kinase; (SOX) SRY (Sex determining region Y)-box; (SSTR) somatostatin receptor; (SYNGR) synaptogyrin; (RPL3L) ribosomal protein, L3-like; (RPL3) ribosomal protein L3; (CREBBP) CREB-binding protein; (EP300) E1A binding protein p300; (CACN) voltage-gated calcium channel; (GRIN) ionotropic glutamate receptor; (PMM) phosphomannomutase; (TOP) topoisomerase; (CRY) crystallin; (PRKC) protein kinase C; (TBX) T-box transcription factor; (TBR) T-box brain protein; (CLT) clathrin; (N.D.) not determined. New gene symbols were approved by the HUGO/GDB Nomenclature Committee.