The Nucleolus of Caenorhabditis elegans

Table 1

Mutated human genes involved in the diseases of ribosomopathies and their C. elegans homologs.

Disease	Defective gene*	C. elegans homolog	Chromosomal location	Product and function	Operon
Bowen-Conradi syndrome	EMG1	Y39A1A.14	III	Methyltransferase
Treachere-Collins syndrome	TCOF1	K06A9.1	X	Three predicated proteins, containing 825 aa, 1032 aa, and 2232 aa
5q-syndrome	RPS14	rps-14	III	Small ribosomal subunit S14 protein
Cartilage hair hypoplasia	RMRP	mrpr-1	II	RNA component of the endoribonuclease RNase MRP
Shwachman-Diamond syndrome	SBDS	W06E11.4	III	Nucleolar protein required for maturation of 60S ribosomal subunits	T19C3.7
Dyskeratosis congenita	DKC1	K01G5.5	III	A predicated protein containing 445 aa
Diamond-Blackfan anemia	RPS19, RPS24, RPS17, RPL35, RPL5, RPL11, RPS7, RPL36, RPS15, RPS27A	rps-19	I	Small ribosomal subunit S19 protein

*References: Armistead et al., [60]; Narla and Ebert, [61].