Table 1. Sequence library of the direct... | American Society of Hematology

Table 1.

Sequence library of the direct (mbr/JH) junctions

Clone^*	mbr^†	S^‡	BCL-2 mbr sequence^1-153	De novo nucleotide additions (D regions)^1-155	JH sequence	JH	S
Germline	1a		ACGTGGCCTGTTTCAACACAGACCCACCCAGAGC		ATTACTACTACTACTACGGTATGG	JH6b
Germline	1b		CCTCCTGCCCTCCTTCCGCGGGG		ATTACTACTACTACTACTACATGG	JH6c
Germline	2a		GCTTTCTCATGGCTGTCCTTCAGGGTCTTCCTGAAATG		ACAACTGGTTCGACCCCTGG	JH5
Germline	2b		CAGTGGTCGTTACGCTCC		ACTACTTTGACTACTGG	JH4
Germline	3a		ACCAAGAAAGCAGGAAACCTGTGGTATGAAGC		TGATGCTTTTGATATCTGG	JH3
Germline	3b		CAGACCTCCCCGGCGGGCCTCAGGGAACAGAATGATCAGAC
#1^*+	1a	−11	ACGTGGCCTGTTTCAACACAGACCC	GGCTTCCTAGGGGTCCGG	ACTACTACTACTACGGTATGG	JH6	−3
#2^*+	1b	−8	CCTCCTGCC	TCGCGGGGACCAGGAGTTGAGTCCCGAAGG	TTGACTACTGGGGCCAAGG	JH4	−6
#3^*+	1b	−7	CCTCCTGCCC	CAAGTAGGGAGTCAGGG	TACTGGGGCCAAGG	JH4	−11
#4^*+	1b	+34	CCTCCTGCCCTCCT	AGGGCTGCCCAGACGAAA	ACTACTACTACTACGGTATGG	JH6	−3
#5^*	1b	−2	CCTCCTGCCCTCCTTC	AGTGAGGATT{TCACGGTAG}	ACTACTACTACTACGGTATGG	D4-17/JH6	−3/−3
#6^*+	1b	+1	CCTCCTGCCCTCCTTCC	ACACCAACTC	ACTACTACTACGGTATGG	JH6	−6
#7	1b	+2	CCTCCTGCCCTCCTTCC	T	CTACGGTATGG	JH6	−13
#8^*+	1b	−2	CCTCCTGCCCTCCTTCC	AAGAAGA	GG	JH6	−22
#9^*+	1b	+4	CCTCCTGCCCTCCTTCCGC	CCCACTTTCCGGATG	ACTACTACTACGGTATGG	JH6	−6
#10+	1b	0	CCTCCTGCCCTCCTTCCGC	CGATAAA	TACTACTACGGTATGG	JH6	−8
#11^*+	1b	0	CCTCCTGCCCTCCTTCCGC	CGGACGTCTAGGA	ACTACTGG	JH4	−9
#12^*+	1b	+1	CCTCCTGCCCTCCTTCCGCGG	TTCGCACACATCCAGGGGAGG	ATTACTACTACTACTACGGTATGG	JH6	0
#13^*+	1b	+4	CCTCCTGCCCTCCTTCCGCGG	AT	CTACGGTATGG	JH6	−13
#14^*	2a	−9	GC	C	CTACTACGGTATGG	JH6	−10
#15	2a	+8	TGTCCTTCAGGGTCTTCCT	TCAGAAGTAGTTTCCC	CTACTTTGACTACTGG	JH4	−1
#16^*+	2b	−11	CA	TCTCGCACCGGG	GG	JH?
#17^*+	2b	−5	CAGTGGTCGT	CCCCTTT	tACTACTTTGACTACTACTGGGGC	JH4	P + 1
#18^*+	2b	+17	CAGTGGTCGTT	GAG	CTACTACTACTACTACATGG	JH6c	−4
#19	2b	−14	CAGTGGTCGTT	TTTAGGGCTCGTAGGCCTGAAAAAAC{GTATTACGATTTTTGGAGTGGTTATTAT} CC	ATTACTACTACTACTACTACATGG	D3-3/JH6c	0/0
#20	2b	P + 1	CAGTGGTCGTTAt	CAGGTAGGGGG	CGGTATGG	JH6	−16
#21	2b	−7	CAGTGGTCGTTA	AAGCCCGCACGGGCG	CTACGGTATGG	JH6	−13
#22^*+	2b	−2	CAGTGGTCGTTA	GGGTGTGGGGG	CTGG	JH?
#23^*+	2b	−4	CAGTGGTCGTTA	TTGGCGTAGGTTCAACGGCCACCCCTCCGAAACCCG	CTACTACTACTACGGTATGG	JH6	−4
#24	2b	0	CAGTGGTCGTTA	GGGCTTAACTTCTACGGCATGGGC	ACGTCTGG	JH6	−24
#25^*+	2b	−2	CAGTGGTCGTTA	GAAAGG	AACTGGTTCGACCCCTGG	JH5	−2
#26^*+	2b	0	CAGTGGTCGTTA	A	AACCCTGGTCACCGTCTC	JH4/5
#27^*+	2b	+1	CAGTGGTCGTTA	TTGTGTCCATAAAGCCCTATCTGA	TACTACTACTACGGTATGG	JH6	−5
#28^*+	2b	0	CAGTGGTCGTTAC	CACCAAAGGAGGAA{GAATTACTATGGTTCAGGGAGTTATT}CGGT	TACTACTACGGTATGG	D3-10/JH6	−5/−8
#29	2b	−3	CAGTGGTCGTTAC	TCCCCCTTCTCGGCAAGTGAA	TACTACTACTACGGTATGG	JH6	−5
#30^*+	2b	−2	CAGTGGTCGTTAC	AGACCGAGGGCCC	CTACATGG	JH6c	−16
#31^*+	3a	−10	ACCAAGAAAG	AATCCGAATGG	ACTACTACTACTACGGTATGG	JH6	−3
#32^*+	3a	−6	ACCAAGAAAGCAG	CATCTCCGAAG	ACAACTGGTTCGACCCCTGG	JH5	0
#33^*	3a	−2	ACCAAGAAAGCAGG	C{GGTGTTATGACTAC}	ATGG	D3-22/JH6	0/−20
#34+	3a	+18	ACCAAGAAAGCAGGAA	TGAGGCGGTGCGGGGGGCAGGA	TGGTTCGACCCCTGG	JH5	−5
#35^*+	3b	−12	CA	CGGCCCTTTAGGATCCCCCATTGGTTC	CTACTACTACTACTACATGG	JH6c	−4
#36	3b	−22	CAGACCTCCC	TGG	ACGGTATGG	JH6	−15
#37	3b	0	CAGACCTCCCC	CTTGCTTGCCGAC	ATTACTACTACTACTACGGTATGG	JH6	0
#38^*+	3b	+4	CAGACCTCCCCGGCGG	TTCCCCGGGACCCCTGAGATCAAGG	ACTACTACTACGGTATGG	JH6	−6
#39^*+	3b	−13	CAGACCTCCCCGGCGG	TAAAGGAAA	TGACTACTGG	JH4	−7
#40	3b	+56	CAGACCTCCCCGGCGGGCCTCAGGGAACAGAAT	TAGGGACACCCACCAAATACTAGGGCATCAACCGATACCCCGGGAAGA	GTATGG	JH6	−18

Clone^*	mbr^†	S^‡	BCL-2 mbr sequence^1-153	De novo nucleotide additions (D regions)^1-155	JH sequence	JH	S
Germline	1a		ACGTGGCCTGTTTCAACACAGACCCACCCAGAGC		ATTACTACTACTACTACGGTATGG	JH6b
Germline	1b		CCTCCTGCCCTCCTTCCGCGGGG		ATTACTACTACTACTACTACATGG	JH6c
Germline	2a		GCTTTCTCATGGCTGTCCTTCAGGGTCTTCCTGAAATG		ACAACTGGTTCGACCCCTGG	JH5
Germline	2b		CAGTGGTCGTTACGCTCC		ACTACTTTGACTACTGG	JH4
Germline	3a		ACCAAGAAAGCAGGAAACCTGTGGTATGAAGC		TGATGCTTTTGATATCTGG	JH3
Germline	3b		CAGACCTCCCCGGCGGGCCTCAGGGAACAGAATGATCAGAC
#1^*+	1a	−11	ACGTGGCCTGTTTCAACACAGACCC	GGCTTCCTAGGGGTCCGG	ACTACTACTACTACGGTATGG	JH6	−3
#2^*+	1b	−8	CCTCCTGCC	TCGCGGGGACCAGGAGTTGAGTCCCGAAGG	TTGACTACTGGGGCCAAGG	JH4	−6
#3^*+	1b	−7	CCTCCTGCCC	CAAGTAGGGAGTCAGGG	TACTGGGGCCAAGG	JH4	−11
#4^*+	1b	+34	CCTCCTGCCCTCCT	AGGGCTGCCCAGACGAAA	ACTACTACTACTACGGTATGG	JH6	−3
#5^*	1b	−2	CCTCCTGCCCTCCTTC	AGTGAGGATT{TCACGGTAG}	ACTACTACTACTACGGTATGG	D4-17/JH6	−3/−3
#6^*+	1b	+1	CCTCCTGCCCTCCTTCC	ACACCAACTC	ACTACTACTACGGTATGG	JH6	−6
#7	1b	+2	CCTCCTGCCCTCCTTCC	T	CTACGGTATGG	JH6	−13
#8^*+	1b	−2	CCTCCTGCCCTCCTTCC	AAGAAGA	GG	JH6	−22
#9^*+	1b	+4	CCTCCTGCCCTCCTTCCGC	CCCACTTTCCGGATG	ACTACTACTACGGTATGG	JH6	−6
#10+	1b	0	CCTCCTGCCCTCCTTCCGC	CGATAAA	TACTACTACGGTATGG	JH6	−8
#11^*+	1b	0	CCTCCTGCCCTCCTTCCGC	CGGACGTCTAGGA	ACTACTGG	JH4	−9
#12^*+	1b	+1	CCTCCTGCCCTCCTTCCGCGG	TTCGCACACATCCAGGGGAGG	ATTACTACTACTACTACGGTATGG	JH6	0
#13^*+	1b	+4	CCTCCTGCCCTCCTTCCGCGG	AT	CTACGGTATGG	JH6	−13
#14^*	2a	−9	GC	C	CTACTACGGTATGG	JH6	−10
#15	2a	+8	TGTCCTTCAGGGTCTTCCT	TCAGAAGTAGTTTCCC	CTACTTTGACTACTGG	JH4	−1
#16^*+	2b	−11	CA	TCTCGCACCGGG	GG	JH?
#17^*+	2b	−5	CAGTGGTCGT	CCCCTTT	tACTACTTTGACTACTACTGGGGC	JH4	P + 1
#18^*+	2b	+17	CAGTGGTCGTT	GAG	CTACTACTACTACTACATGG	JH6c	−4
#19	2b	−14	CAGTGGTCGTT	TTTAGGGCTCGTAGGCCTGAAAAAAC{GTATTACGATTTTTGGAGTGGTTATTAT} CC	ATTACTACTACTACTACTACATGG	D3-3/JH6c	0/0
#20	2b	P + 1	CAGTGGTCGTTAt	CAGGTAGGGGG	CGGTATGG	JH6	−16
#21	2b	−7	CAGTGGTCGTTA	AAGCCCGCACGGGCG	CTACGGTATGG	JH6	−13
#22^*+	2b	−2	CAGTGGTCGTTA	GGGTGTGGGGG	CTGG	JH?
#23^*+	2b	−4	CAGTGGTCGTTA	TTGGCGTAGGTTCAACGGCCACCCCTCCGAAACCCG	CTACTACTACTACGGTATGG	JH6	−4
#24	2b	0	CAGTGGTCGTTA	GGGCTTAACTTCTACGGCATGGGC	ACGTCTGG	JH6	−24
#25^*+	2b	−2	CAGTGGTCGTTA	GAAAGG	AACTGGTTCGACCCCTGG	JH5	−2
#26^*+	2b	0	CAGTGGTCGTTA	A	AACCCTGGTCACCGTCTC	JH4/5
#27^*+	2b	+1	CAGTGGTCGTTA	TTGTGTCCATAAAGCCCTATCTGA	TACTACTACTACGGTATGG	JH6	−5
#28^*+	2b	0	CAGTGGTCGTTAC	CACCAAAGGAGGAA{GAATTACTATGGTTCAGGGAGTTATT}CGGT	TACTACTACGGTATGG	D3-10/JH6	−5/−8
#29	2b	−3	CAGTGGTCGTTAC	TCCCCCTTCTCGGCAAGTGAA	TACTACTACTACGGTATGG	JH6	−5
#30^*+	2b	−2	CAGTGGTCGTTAC	AGACCGAGGGCCC	CTACATGG	JH6c	−16
#31^*+	3a	−10	ACCAAGAAAG	AATCCGAATGG	ACTACTACTACTACGGTATGG	JH6	−3
#32^*+	3a	−6	ACCAAGAAAGCAG	CATCTCCGAAG	ACAACTGGTTCGACCCCTGG	JH5	0
#33^*	3a	−2	ACCAAGAAAGCAGG	C{GGTGTTATGACTAC}	ATGG	D3-22/JH6	0/−20
#34+	3a	+18	ACCAAGAAAGCAGGAA	TGAGGCGGTGCGGGGGGCAGGA	TGGTTCGACCCCTGG	JH5	−5
#35^*+	3b	−12	CA	CGGCCCTTTAGGATCCCCCATTGGTTC	CTACTACTACTACTACATGG	JH6c	−4
#36	3b	−22	CAGACCTCCC	TGG	ACGGTATGG	JH6	−15
#37	3b	0	CAGACCTCCCC	CTTGCTTGCCGAC	ATTACTACTACTACTACGGTATGG	JH6	0
#38^*+	3b	+4	CAGACCTCCCCGGCGG	TTCCCCGGGACCCCTGAGATCAAGG	ACTACTACTACGGTATGG	JH6	−6
#39^*+	3b	−13	CAGACCTCCCCGGCGG	TAAAGGAAA	TGACTACTGG	JH4	−7
#40	3b	+56	CAGACCTCCCCGGCGGGCCTCAGGGAACAGAAT	TAGGGACACCCACCAAATACTAGGGCATCAACCGATACCCCGGGAAGA	GTATGG	JH6	−18

Samples marked by an asterisk (*) were PCR-amplified and sequenced twice. Samples marked by a plus (+) were amplified with a 4:1 proportion of Taq DNA polymerase and Vent high-fidelity DNA polymerase.

†

For practical purposes, the mbr sequence was broken into 6 immediately adjacent pieces (1a to 3b). Clusters 1, 2, and 3 are underlined.

‡

S: status of coding end or mbr end processing (0 = precise, −n = deletion, +n = duplication, P + n = P nucleotide).

F1-153

P nucleotides are shown in italics.

F1-155

De novo nucleotide additions are represented in bold character. D_H segments found in the direct breakpoints are shown between brackets. Mutations in the D_H sequences are underlined. These sequence data are available from Genbank under accession numbers AF147979 to AF148063.

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